Compound Heterozygous
congenital disorders of glycosylation
glycosylphosphatidylinositol
infantile spasms
intellectual disability
phosphatidylinositol glycan class S
whole-exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
03
03
2020
accepted:
11
05
2020
entrez:
3
7
2020
pubmed:
3
7
2020
medline:
3
7
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32612635
doi: 10.3389/fgene.2020.00564
pmc: PMC7308501
doi:
Types de publication
Journal Article
Langues
eng
Pagination
564Informations de copyright
Copyright © 2020 Zhang, Mao, Long, Xiao, Luo, Xiao and Jin.
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