Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
复制标题
DOI：
10.3389/fgene.2020.00564
复制
发表时间：
2020-06-16
影响因子：
3.7
通讯作者：
Jin, Xingbing
中科院分区：
文献类型：
--
作者：
Zhang, Lily;Mao, Xiao;Jin, Xingbing
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 inPIGS(MIM:610271):c.148C > T (p.Gln50*) and c.1141_1164dupGACATGGTGCGAGTGATGGAGGTG (p.Asp381_Val388dup). Flow cytometry analyses demonstrated that the boy withPIGSvariants had a decreased expression of GPI-APs. This study stresses the importance of including the screening ofPIGSgene in the case of pediatric neurological syndromes and reviews the clinical features ofPIGS-associated disorders.
