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

Frontiers in Genetics

Xiao Mao¹  Bo Xiao²  Wenbiao Xiao²  Hongyu Long²  Lily Zhang²  Zhaohui Luo²  Xingbing Jin³ 

[1] Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China;Neurology Department, Xiangya Hospital, Central South University, Changsha, China;Neurosurgery Department, Xiangya Hospital, Central South University, Changsha, China;

关键词: glycosylphosphatidylinositol;    congenital disorders of glycosylation;    phosphatidylinositol glycan class S;    infantile spasms;    whole-exome sequencing;    intellectual disability;   

DOI  :  10.3389/fgene.2020.00564

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown