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Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia

Glycosylphosphatidylinositol (GPI) is a membrane anchor for cell surface proteins. Inherited GPI deficiencies are a new subclass of congenital disorders of glycosylation. Phosphatidylinositol glycan class S (PIGS) is a subunit of the GPI transamidase which plays important roles in many biological pr...

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Autores principales: Zhang, Lily, Mao, Xiao, Long, Hongyu, Xiao, Bo, Luo, Zhaohui, Xiao, Wenbiao, Jin, Xingbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308501/
https://www.ncbi.nlm.nih.gov/pubmed/32612635
http://dx.doi.org/10.3389/fgene.2020.00564
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author Zhang, Lily
Mao, Xiao
Long, Hongyu
Xiao, Bo
Luo, Zhaohui
Xiao, Wenbiao
Jin, Xingbing
author_facet Zhang, Lily
Mao, Xiao
Long, Hongyu
Xiao, Bo
Luo, Zhaohui
Xiao, Wenbiao
Jin, Xingbing
author_sort Zhang, Lily
collection PubMed
description Glycosylphosphatidylinositol (GPI) is a membrane anchor for cell surface proteins. Inherited GPI deficiencies are a new subclass of congenital disorders of glycosylation. Phosphatidylinositol glycan class S (PIGS) is a subunit of the GPI transamidase which plays important roles in many biological processes. In this study, we present a Chinese boy with infantile spasms (ISs), severe global developmental delay, hearing loss, visual impairment (cortical blindness), hypotonia, and intellectual disability and whose whole-exome sequencing (WES) identified compound heterozygous variants in PIGS (MIM:610271):c.148C > T (p.Gln50(∗)) and c.1141_1164dupGACATGGTGCGAGTGATGGAGGTG (p.Asp381_Val388dup). Flow cytometry analyses demonstrated that the boy with PIGS variants had a decreased expression of GPI-APs. This study stresses the importance of including the screening of PIGS gene in the case of pediatric neurological syndromes and reviews the clinical features of PIGS-associated disorders.
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spelling pubmed-73085012020-06-30 Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia Zhang, Lily Mao, Xiao Long, Hongyu Xiao, Bo Luo, Zhaohui Xiao, Wenbiao Jin, Xingbing Front Genet Genetics Glycosylphosphatidylinositol (GPI) is a membrane anchor for cell surface proteins. Inherited GPI deficiencies are a new subclass of congenital disorders of glycosylation. Phosphatidylinositol glycan class S (PIGS) is a subunit of the GPI transamidase which plays important roles in many biological processes. In this study, we present a Chinese boy with infantile spasms (ISs), severe global developmental delay, hearing loss, visual impairment (cortical blindness), hypotonia, and intellectual disability and whose whole-exome sequencing (WES) identified compound heterozygous variants in PIGS (MIM:610271):c.148C > T (p.Gln50(∗)) and c.1141_1164dupGACATGGTGCGAGTGATGGAGGTG (p.Asp381_Val388dup). Flow cytometry analyses demonstrated that the boy with PIGS variants had a decreased expression of GPI-APs. This study stresses the importance of including the screening of PIGS gene in the case of pediatric neurological syndromes and reviews the clinical features of PIGS-associated disorders. Frontiers Media S.A. 2020-06-16 /pmc/articles/PMC7308501/ /pubmed/32612635 http://dx.doi.org/10.3389/fgene.2020.00564 Text en Copyright © 2020 Zhang, Mao, Long, Xiao, Luo, Xiao and Jin. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Zhang, Lily
Mao, Xiao
Long, Hongyu
Xiao, Bo
Luo, Zhaohui
Xiao, Wenbiao
Jin, Xingbing
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title_full Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title_fullStr Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title_full_unstemmed Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title_short Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
title_sort compound heterozygous pigs variants associated with infantile spasm, global developmental delay, hearing loss, visual impairment, and hypotonia
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308501/
https://www.ncbi.nlm.nih.gov/pubmed/32612635
http://dx.doi.org/10.3389/fgene.2020.00564
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