Next Article in Journal
Associations between Radiomics and Genomics in Non-Small Cell Lung Cancer Utilizing Computed Tomography and Next-Generation Sequencing: An Exploratory Study
Previous Article in Journal
Genome-Wide Characterization of Somatic Mutation Patterns in Cloned Dogs Reveals Implications for Neuronal Function, Tumorigenesis, and Aging
Previous Article in Special Issue
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability—An Exception or a Necessity?
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 15
Issue 6
10.3390/genes15060802
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern

by
Alba Gabaldon-Albero
1,2,
Lourdes Cordon
3,4,
Amparo Sempere
3,4,5,
Laia Pedrola
1,6,
Carla Martin-Grau
1,6,
Silvestre Oltra
1,6,
Sandra Monfort
1,6,
Alfonso Caro-Llopis
1,6,
Marta Dominguez-Martinez
1,6,
Sara Hernandez-Muela
2,
Monica Rosello
1,6,
Carmen Orellana
1,6 and
Francisco Martinez
1,6,*
1
Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain
2
Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain
3
Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain
4
Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain
5
Hematology and Hemotherapy Service, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain
6
Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain
*
Author to whom correspondence should be addressed.
Genes 2024, 15(6), 802; https://0-doi-org.brum.beds.ac.uk/10.3390/genes15060802
Submission received: 6 May 2024 / Revised: 12 June 2024 / Accepted: 14 June 2024 / Published: 18 June 2024
(This article belongs to the Special Issue Application of Next-Generation Sequencing in Genetic Diseases Diagnosis)
Review Reports Versions Notes

Abstract

Germline variants in the phosphatidylinositol glycan class A (PIGA) gene, which is involved in glycosylphosphatidylinositol (GPI) biosynthesis, cause multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with X-linked recessive inheritance. The available literature has described a pattern of almost 100% X-chromosome inactivation in mothers carrying PIGA variants. Here, we report a male infant with MCAHS2 caused by a novel PIGA variant inherited from his mother, who has a non-skewed pattern of X inactivation. Phenotypic evidence supporting the pathogenicity of the variant was obtained by flow-cytometry tests. We propose that the assessment in neutrophils of the expression of GPI-anchored proteins (GPI-APs), especially CD16, should be considered in cases with variants of unknown significance with random X-inactivation in carrier mothers in order to clarify the pathogenic role of PIGA or other gene variants linked to the synthesis of GPI-APs.
Keywords: phosphatidylinositol glycan-class A protein; epileptic encephalopathy; drug resistant epilepsy; X-linked; flow cytometry phosphatidylinositol glycan-class A protein; epileptic encephalopathy; drug resistant epilepsy; X-linked; flow cytometry

Share and Cite

MDPI and ACS Style

Gabaldon-Albero, A.; Cordon, L.; Sempere, A.; Pedrola, L.; Martin-Grau, C.; Oltra, S.; Monfort, S.; Caro-Llopis, A.; Dominguez-Martinez, M.; Hernandez-Muela, S.; et al. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern. Genes 2024, 15, 802. https://0-doi-org.brum.beds.ac.uk/10.3390/genes15060802

AMA Style

Gabaldon-Albero A, Cordon L, Sempere A, Pedrola L, Martin-Grau C, Oltra S, Monfort S, Caro-Llopis A, Dominguez-Martinez M, Hernandez-Muela S, et al. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern. Genes. 2024; 15(6):802. https://0-doi-org.brum.beds.ac.uk/10.3390/genes15060802

Chicago/Turabian Style

Gabaldon-Albero, Alba, Lourdes Cordon, Amparo Sempere, Laia Pedrola, Carla Martin-Grau, Silvestre Oltra, Sandra Monfort, Alfonso Caro-Llopis, Marta Dominguez-Martinez, Sara Hernandez-Muela, and et al. 2024. "Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern" Genes 15, no. 6: 802. https://0-doi-org.brum.beds.ac.uk/10.3390/genes15060802

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop