Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3

PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identif...

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Bibliographic Details
Main Authors: Li Yang, Jing Peng, Xiao-Meng Yin, Nan Pang, Chen Chen, Teng-Hui Wu, Xiao-Min Zou, Fei Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-05-01
Series:Frontiers in Genetics
Subjects:
epilepsy
global developmental delay
GPI-anchored proteins
hypotonia
MCAHS3
multi-malformations
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00153/full

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