ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Yue BianChong QiaoShuGuang ZhengHao QiuHuan LiZhiTao ZhangShaoWei YinHongKun JiangJesse Li-LingCaiXia LiuYuan Lyu

Published in: Journal of human genetics (2020)

Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3: NM_005787.6:c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6:c.511C>T (p.Arg171Trp) inherited from the father.

Keyphrases

copy number
photodynamic therapy
intellectual disability
cerebrospinal fluid
dna methylation
drug induced