ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
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ABSTRACT:
SUBMITTER: Bian Y
PROVIDER: S-EPMC7605439 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Publications
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Yue Y Qiao Chong C Zheng ShuGuang S Qiu Hao H Li Huan H Zhang ZhiTao Z Yin ShaoWei S Jiang HongKun H Li-Ling Jesse J Liu CaiXia C Lyu Yuan Y
Journal of human genetics 20200712 12
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. ...[more]
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