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Genetics of Psychiatric Disease and the Basics of Neurobiology
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Genetics of Psychiatric Disease and the Basics of Neurobiology

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (5 August 2022) | Viewed by 36170

Special Issue Editors

Dr. Laia Rodriguez-Revenga

E-Mail Website
Guest Editor
Hospital Clinic de Barcelona, Centro de Diagonóstico Biomédico, Barcelona, Catalonia, Spain
Interests: fragile X syndrome; intellectual disorders; chromosome rearrangement research; molecular genetics
Dr. Maria Isabel Álvarez

E-Mail Website
Guest Editor
Centro de Diagonóstico Biomédico, Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain
Interests: neurodegenerative diseases; next-generation sequencing; genetic analysis; genomics

Special Issue Information

Dear Colleagues,

Psychiatric disorders are the leading cause of disability worldwide. Most psychiatric disorders, including schizophrenia, bipolar disorder, attention deficit hyperactivity disorder (ADHD), and autism have a clear genetic component estimated at 80% or higher. The etiology of the major psychiatric disorders is a complex combination of both genetic and environmental components. Advances in our understanding of the genome, together with the advent of new high throughput technologies and analytical methods, are providing new clues to better understand the biology of psychiatric disorders. It is forecasted that new genetic testing and therapeutic strategies will result from this knowledge.

It is my great privilege and pleasure to introduce this Special Issue on Genetics of Psychiatric Disease and the Basics of Neurobiology. Psychiatric disorders constitute a major public health burden with high economic and social impact worldwide. The aim of this Special Issue is to present state-of-the-art advancements and research done in this area. In recent years, there has been an increasing number of detection of genetic variants associated with neuropsychiatric disorders. These promising findings suggest that we are at the beginning of a new era with new efforts fostering the translation of this knowledge into a precision medicine framework. Original research and review papers dealing with all aspects of “Genetics of Psychiatric Disease and the Basics of Neurobiology” are welcome for inclusion in this Special issue of Genes.

Dr. Laia Rodriguez-Revenga
Dr. Maria Isabel Álvarez
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Psychiatric disorders
  • Brain biology
  • Genetics
  • Pharmacogenetics
  • Complex trait

Published Papers (11 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 185 KiB  
Editorial
Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology
by Laia Rodriguez-Revenga and Maria Isabel Alvarez-Mora
Genes 2022, 13(11), 2008; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13112008 - 02 Nov 2022
Viewed by 1008
Abstract
A psychiatric disorder is a mental illness involving significant disturbances in thinking, emotional regulation or behavior [...] Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)

Research

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15 pages, 813 KiB  
Article
Associations between the COMT rs4680 Gene Polymorphism and Personality Dimensions and Anxiety in Patients with a Diagnosis of Other Stimulants Dependence
by Krzysztof Chmielowiec, Jolanta Chmielowiec, Jolanta Masiak, Aleksandra Strońska-Pluta, Małgorzata Śmiarowska, Agnieszka Boroń and Anna Grzywacz
Genes 2022, 13(10), 1768; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13101768 - 30 Sep 2022
Cited by 3 | Viewed by 1997
Abstract
Background: Research on the hypodopaminergic hypothesis of addictions showed that hypodopaminergic activity in males predicted the number of drugs used and is associated with drug-seeking behavior. Variant alleles may cause hypodopaminergic functioning as a result of the reduced density of dopamine receptors, decreased [...] Read more.
Background: Research on the hypodopaminergic hypothesis of addictions showed that hypodopaminergic activity in males predicted the number of drugs used and is associated with drug-seeking behavior. Variant alleles may cause hypodopaminergic functioning as a result of the reduced density of dopamine receptors, decreased response to dopamine, increased dopamine clearance or metabolism in the reward system. The catechol-O-methyltransferase (COMT) is involved in the metabolism of dopamine. Personality traits may mediate the genetic predisposition to substance use disorders additively by various motivations associated with reward-seeking and regulating negative emotions, and also relate to self-control and environment selection. The aim of the study: The aim of this study was to investigate the association of the rs4680 polymorphism of COMT with personality dimensions and anxiety in patients addicted to stimulants other than cocaine (F15 according to WHO ICD-10 nomenclature) in the case of examined patients amphetamine. Methods: The study was conducted among patients addicted to stimulants other than cocaine (amphetamine). The study group included 247 patients addicted to stimulants (amphetamine) and the control group comprised 280 healthy male volunteers. The real-time PCR method was used to carry out genetic tests; personality dimensions were assessed using the standardized NEO-FFI and state and trait anxiety were assessed with STAI. All analyses were performed using STATISTICA 13. Results: The results of the 2 × 3 factorial ANOVA showed a statistically significant effect of the combined factor COMT rs4680 genotype on the group of patients diagnosed with other stimulants dependence/control (F2,252 = 3.11, p = 0.0465, η2 = 0.024). Additionally, we observed that the results of the 2 × 3 factorial ANOVA showed a statistically significant influence of the combined factor COMT rs4680 on the genotype in the group of patients diagnosis with other stimulants dependence/control (F2,252 = 6.16, p = 0.0024, η2 = 0.047). Conclusions: In our research, the polymorphism G/G COMT rs4680 genotype was associated with higher scores of STAI traits and STAI states in the patients dependent on amphetamine. In the control group we observed no such interactions. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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10 pages, 1413 KiB  
Article
Genetic Dissection of Temperament Personality Traits in Italian Isolates
by Maria Pina Concas, Alessandra Minelli, Susanna Aere, Anna Morgan, Paola Tesolin, Paolo Gasparini, Massimo Gennarelli and Giorgia Girotto
Genes 2022, 13(1), 4; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13010004 - 21 Dec 2021
Cited by 2 | Viewed by 4056
Abstract
Human personality (i.e., temperament and character) is a complex trait related to mental health, influenced by genetic and environmental factors. Despite the efforts performed during the past decades, its genetic background is only just beginning to be identified. With the aim of dissecting [...] Read more.
Human personality (i.e., temperament and character) is a complex trait related to mental health, influenced by genetic and environmental factors. Despite the efforts performed during the past decades, its genetic background is only just beginning to be identified. With the aim of dissecting the genetic basis of temperament, we performed a Genome-Wide Association Study (GWAS) on Cloninger’s Temperament and Character Inventory in 587 individuals belonging to different Italian genetic isolates. Data analysis led to the identification of four new genes associated with different temperament scales, such as Novelty Seeking (NS), Harm Avoidance (HA), and Reward Dependence (RD). In detail, we identified suggestive and significant associations between: MAGI2 (highest p-value = 9.14 × 10−8), a gene already associated with schizophrenia and depressive disorder, and the NS–Extravagance scale; CALCB (highest p-value = 4.34 × 10−6), a gene likely involved in the behavioral evolution from wild wolf to domestic dog, and the NS–Disorderliness scale; BTBD3 (highest p-value = 2.152 × 10−8), a gene already linked to obsessive–compulsive disorder, and the HA–Fatigability scale; PRKN (highest p-value = 8.27 × 10−9), a gene described for early onset Parkinson’s disease, and the RD scale. Our work provides new relevant insights into the genetics of temperament, helping to elucidate the molecular basis of psychiatric disorders. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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14 pages, 1420 KiB  
Article
A Common CDH13 Variant Is Associated with Low Agreeableness and Neural Responses to Working Memory Tasks in ADHD
by Georg C. Ziegler, Ann-Christine Ehlis, Heike Weber, Maria Rosaria Vitale, Johanna E. M. Zöller, Hsing-Ping Ku, Miriam A. Schiele, Laura I. Kürbitz, Marcel Romanos, Paul Pauli, Raffael Kalisch, Peter Zwanzger, Katharina Domschke, Andreas J. Fallgatter, Andreas Reif and Klaus-Peter Lesch
Genes 2021, 12(9), 1356; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12091356 - 29 Aug 2021
Cited by 5 | Viewed by 4822
Abstract
The cell—cell signaling gene CDH13 is associated with a wide spectrum of neuropsychiatric disorders, including attention-deficit/hyperactivity disorder (ADHD), autism, and major depression. CDH13 regulates axonal outgrowth and synapse formation, substantiating its relevance for neurodevelopmental processes. Several studies support the influence of CDH13 on [...] Read more.
The cell—cell signaling gene CDH13 is associated with a wide spectrum of neuropsychiatric disorders, including attention-deficit/hyperactivity disorder (ADHD), autism, and major depression. CDH13 regulates axonal outgrowth and synapse formation, substantiating its relevance for neurodevelopmental processes. Several studies support the influence of CDH13 on personality traits, behavior, and executive functions. However, evidence for functional effects of common gene variation in the CDH13 gene in humans is sparse. Therefore, we tested for association of a functional intronic CDH13 SNP rs2199430 with ADHD in a sample of 998 adult patients and 884 healthy controls. The Big Five personality traits were assessed by the NEO-PI-R questionnaire. Assuming that altered neural correlates of working memory and cognitive response inhibition show genotype-dependent alterations, task performance and electroencephalographic event-related potentials were measured by n-back and continuous performance (Go/NoGo) tasks. The rs2199430 genotype was not associated with adult ADHD on the categorical diagnosis level. However, rs2199430 was significantly associated with agreeableness, with minor G allele homozygotes scoring lower than A allele carriers. Whereas task performance was not affected by genotype, a significant heterosis effect limited to the ADHD group was identified for the n-back task. Heterozygotes (AG) exhibited significantly higher N200 amplitudes during both the 1-back and 2-back condition in the central electrode position Cz. Consequently, the common genetic variation of CDH13 is associated with personality traits and impacts neural processing during working memory tasks. Thus, CDH13 might contribute to symptomatic core dysfunctions of social and cognitive impairment in ADHD. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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11 pages, 671 KiB  
Article
SLC6A3 (DAT1) as a Novel Candidate Biomarker Gene for Suicidal Behavior
by Ekaterina Rafikova, Maria Shadrina, Peter Slominsky, Alla Guekht, Alexey Ryskov, Dmitry Shibalev and Vasiliy Vasilyev
Genes 2021, 12(6), 861; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12060861 - 04 Jun 2021
Cited by 4 | Viewed by 2985
Abstract
It has been previously shown that the serotonin and dopamine neurotransmitter systems might influence the predisposition to suicidal behavior. This study aims to estimate the contribution of 11 polymorphisms in the genes SLC6A4 (5HTT), HTR1A, HTR2A, HTR1B, SLC6A3 [...] Read more.
It has been previously shown that the serotonin and dopamine neurotransmitter systems might influence the predisposition to suicidal behavior. This study aims to estimate the contribution of 11 polymorphisms in the genes SLC6A4 (5HTT), HTR1A, HTR2A, HTR1B, SLC6A3 (DAT1), DRD4, DRD2, COMT, and BDNF to suicidal behavior and severity of symptoms of depression and anxiety in the Russian population. The study was performed on 100 patients with repeated suicide attempts and 154 controls. We first found an association between SLC6A3 (DAT1) 40 bp VNTR locus and suicidal behavior. This association was significant; when using the codominant (p = 0.006), dominant (p = 0.001), overdominant (p = 0.004), and log-additive (p = 0.004) models, LL genotype played a protective role (OR = 0.48, 0.29–0.82, p = 0.005). Difference in the distribution of COMT rs4680 genotypes was significant in the codominant (p = 0.04), dominant (p = 0.013), and log-additive (p = 0.02) models, and AA genotype might protect against suicide (OR = 0.49, 0.26–0.91, p = 0.025). SLC6A4 5-HTTLPR + rs25531 locus was significant in the recessive model (p = 0.024), and also affected the severity of symptoms of depression (p = 0.044) and personal anxiety (p = 0.029). Our results suggest that allelic variants of SLC6A3, COMT, and SLC6A4 genes might be considered as risk factors for suicidal attempts. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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16 pages, 312 KiB  
Article
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
by Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gómez-Manjón, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, Arancha Díaz de Bustamante, María Teresa Darnaude, Belén Gil-Fournier, Soraya Ramiro León, Patricia Ramos Gómez, Olalla Sierra Tomillo, Alexandra Juárez Rufián, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Pérez, Alejandro Segura-Tudela, Ana Camacho, Noemí Nuñez, Rogelio Simón, Marta Moreno-García and Maria Isabel Alvarez-Moraadd Show full author list remove Hide full author list
Genes 2021, 12(4), 560; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12040560 - 12 Apr 2021
Cited by 18 | Viewed by 4194
Abstract
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and [...] Read more.
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
14 pages, 1687 KiB  
Article
Identification of Common Pathogenetic Processes between Schizophrenia and Diabetes Mellitus by Systems Biology Analysis
by Md Rezanur Rahman, Tania Islam, Ferdinando Nicoletti, Maria Cristina Petralia, Rosella Ciurleo, Francesco Fisicaro, Manuela Pennisi, Alessia Bramanti, Talip Yasir Demirtas, Esra Gov, Md Rafiqul Islam, Bashair M. Mussa, Mohammad Ali Moni and Paolo Fagone
Genes 2021, 12(2), 237; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12020237 - 07 Feb 2021
Cited by 13 | Viewed by 3228
Abstract
Schizophrenia (SCZ) is a psychiatric disorder characterized by both positive symptoms (i.e., psychosis) and negative symptoms (such as apathy, anhedonia, and poverty of speech). Epidemiological data show a high likelihood of early onset of type 2 diabetes mellitus (T2DM) in SCZ patients. However, [...] Read more.
Schizophrenia (SCZ) is a psychiatric disorder characterized by both positive symptoms (i.e., psychosis) and negative symptoms (such as apathy, anhedonia, and poverty of speech). Epidemiological data show a high likelihood of early onset of type 2 diabetes mellitus (T2DM) in SCZ patients. However, the molecular processes that could explain the epidemiological association between SCZ and T2DM have not yet been characterized. Therefore, in the present study, we aimed to identify underlying common molecular pathogenetic processes and pathways between SCZ and T2DM. To this aim, we analyzed peripheral blood mononuclear cell (PBMC) transcriptomic data from SCZ and T2DM patients, and we detected 28 differentially expressed genes (DEGs) commonly modulated between SCZ and T2DM. Inflammatory-associated processes and membrane trafficking pathways as common biological processes were found to be in common between SCZ and T2DM. Analysis of the putative transcription factors involved in the regulation of the DEGs revealed that STAT1 (Signal Transducer and Activator of Transcription 1), RELA (v-rel reticuloendotheliosis viral oncogene homolog A (avian)), NFKB1 (Nuclear Factor Kappa B Subunit 1), and ERG (ETS-related gene) are involved in the expression of common DEGs in SCZ and T2DM. In conclusion, we provide core molecular signatures and pathways that are shared between SCZ and T2DM, which may contribute to the epidemiological association between them. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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14 pages, 1845 KiB  
Article
Bullying Victimization in Young Females with Fragile-X-Syndrome
by Lorena Joga-Elvira, Carlos Jacas, María-Luisa Joga, Ana Roche-Martínez and Carme Brun-Gasca
Genes 2020, 11(9), 1069; https://0-doi-org.brum.beds.ac.uk/10.3390/genes11091069 - 11 Sep 2020
Cited by 2 | Viewed by 2765
Abstract
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried [...] Read more.
The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates. This finding suggests that problems with social interaction and communication in the group of girls with FXS could lead to difficulties in interpreting social signals and identifying situations of bullying correctly, placing them in a very vulnerable situation. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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Review

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16 pages, 1395 KiB  
Review
Neuroplastin in Neuropsychiatric Diseases
by Xiao Lin, Yi Liang, Rodrigo Herrera-Molina and Dirk Montag
Genes 2021, 12(10), 1507; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101507 - 26 Sep 2021
Cited by 11 | Viewed by 3583
Abstract
Molecular mechanisms underlying neuropsychiatric and neurodegenerative diseases are insufficiently elucidated. A detailed understanding of these mechanisms may help to further improve medical intervention. Recently, intellectual abilities, creativity, and amnesia have been associated with neuroplastin, a cell recognition glycoprotein of the immunoglobulin superfamily that [...] Read more.
Molecular mechanisms underlying neuropsychiatric and neurodegenerative diseases are insufficiently elucidated. A detailed understanding of these mechanisms may help to further improve medical intervention. Recently, intellectual abilities, creativity, and amnesia have been associated with neuroplastin, a cell recognition glycoprotein of the immunoglobulin superfamily that participates in synapse formation and function and calcium signaling. Data from animal models suggest a role for neuroplastin in pathways affected in neuropsychiatric and neurodegenerative diseases. Neuroplastin loss or disruption of molecular pathways related to neuronal processes has been linked to various neurological diseases, including dementia, schizophrenia, and Alzheimer’s disease. Here, we review the molecular features of the cell recognition molecule neuroplastin, and its binding partners, which are related to neurological processes and involved in learning and memory. The emerging functions of neuroplastin may have implications for the treatment of diseases, particularly those of the nervous system. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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15 pages, 1485 KiB  
Review
Schizophrenia: Complement Cleaning or Killing
by Jirrine T.T. Hogenaar and Hans van Bokhoven
Genes 2021, 12(2), 259; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12020259 - 11 Feb 2021
Cited by 8 | Viewed by 3333
Abstract
Schizophrenia is a psychiatric disorder with a typical onset occurring during adolescence or young adulthood. The heterogeneity of the disorder complicates our understanding of the pathophysiology. Reduced cortical synaptic densities are commonly observed in schizophrenia and suggest a role for excessive synaptic elimination. [...] Read more.
Schizophrenia is a psychiatric disorder with a typical onset occurring during adolescence or young adulthood. The heterogeneity of the disorder complicates our understanding of the pathophysiology. Reduced cortical synaptic densities are commonly observed in schizophrenia and suggest a role for excessive synaptic elimination. A major pathway hypothesised to eliminate synapses during postnatal development is the complement system. This review provides an overview of genetic and functional evidence found for the individual players of the classical complement pathway. In addition, the consequences of the absence of complement proteins, in the form of complement protein deficiencies in humans, are taken into consideration. The collective data provide strong evidence for excessive pruning by the classical complement pathway, contributing to cognitive impairment in schizophrenia. In future studies, it will be important to assess the magnitude of the contribution of complement overactivity to the occurrence and prevalence of phenotypic features in schizophrenia. In addition, more insight is required for the exact mechanisms by which the complement system causes excessive pruning, such as the suggested involvement of microglial engulfment and degradation of synapses. Ultimately, this knowledge is a prerequisite for the development of therapeutic interventions for selective groups of schizophrenia patients. Full article
(This article belongs to the Special Issue Genetics of Psychiatric Disease and the Basics of Neurobiology)
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Other

8 pages, 1519 KiB  
Case Report
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing
by Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal and Laia Rodriguez-Revenga
Genes 2021, 12(4), 557; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12040557 - 12 Apr 2021
Cited by 14 | Viewed by 2434
Abstract
Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, [...] Read more.
Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in TRAPPC9 gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing. Full article
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