Genetics and Genomics of Inherited Metabolic Disorders

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 8328

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Guest Editor
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio “Giovanni Paolo II”, Viale Padre Pio, snc, 71013 San Giovanni Rotondo (FG), Italy
Interests: hyperparathyroidism; hypophosphatasia; calcium dismetabolism genetic diseases; parathyroid carcinoma; hypophosphatemic rickets

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Guest Editor

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Guest Editor
Laboratory of Experimental Endocrinology, IRCCS Istituto Ortopedico Galeazzi, Via R.Galeazzi 4, 20161 Milan, Italy
Interests: biochemical markers; osteoporosis; hyperparathyroidism; bone metabolism; parathyroid tumorigenesis
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio “Giovanni Paolo II”, Viale Padre Pio, snc, 71013 San Giovanni Rotondo, FG, Italy
Interests: neurodevelopmental disorders; autism; epilepsy; copy number variations; genomic syndromes; next-generation sequencing; genotype–phenotype correlations
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Special Issue Information

Dear Colleagues,

Calcium and phosphorus are among the most abundant mineral elements of the human body and are tightly regulated by a homeostasis which is as subtle as it is complex. Nevertheless, Ca and P inherited disorders still represent an underestimated niche of human diseases due to the difficulties associated with a prompt and effective diagnosis, as reflected in the challenges faced in patient management.

Although the recent achievements in the NGS era allowed the identification of some genetic triggers of the Ca/P metabolism, their exact role in the actual pathophysiology remains elusive.

This Special Issue of Genes aims to better focus on genetic and genomics determinants that could influence the subtle balance at the base of Ca and P homeostasis. Thus, unpublished manuscripts (research articles, reviews, and communications) on the NGS approach, as well as functional studies on old and novel genetic players, describing basic, translational, and clinical insights, are encouraged, with particular interest in primary hyperparathyroidism (and endophenotypes, such as FIHP, FHH, HPT-JT, MEN1), hypophosphatemia, hypophosphatasia, and other related disorders.

Dr. Vito Guarnieri
Dr. Maurizio Delvecchio
Dr. Chiara Verdelli
Dr. Orazio Palumbo
Guest Editors

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Keywords

  • next-generation sequencing
  • genetics
  • metabolism
  • metabolic disorders
  • primary hyperparathyroidism
  • hypophosphatemia
  • hypophosphatasia

Published Papers (2 papers)

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Research

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9 pages, 1919 KiB  
Article
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect
by Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami and Fahad Zadjali
Genes 2022, 13(2), 248; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13020248 - 28 Jan 2022
Cited by 1 | Viewed by 1987
Abstract
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, [...] Read more.
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, which is often misdiagnosed as cerebral palsy. We describe six patients with MLIV from two Omani families with a novel c.237+5G>A mutation in the MCOLN1 gene predicted to affect mRNA splicing. Mutation screening with a high-resolution melting (HRM) assay in a large population sample did not detect this mutation in control subjects. This report highlights the importance of considering MLIV in the differential diagnosis of patients in a pediatric age group with cerebral palsy-like presentation. Although the same rare mutation was seen in two apparently unrelated families, this was not seen in the sample screened from the general population. The HRM assay provides a cost-effective assay for population screening for the c.237+5G>A mutation. Full article
(This article belongs to the Special Issue Genetics and Genomics of Inherited Metabolic Disorders)
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Review

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34 pages, 2433 KiB  
Review
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management
by Nipith Charoenngam, Aryan Nasr, Arash Shirvani and Michael F. Holick
Genes 2022, 13(10), 1880; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13101880 - 17 Oct 2022
Cited by 13 | Viewed by 5659
Abstract
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent [...] Read more.
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases. Full article
(This article belongs to the Special Issue Genetics and Genomics of Inherited Metabolic Disorders)
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