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

ABSTRACT: 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.

SUBMITTER: Bian Y 

PROVIDER: S-EPMC7605439 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature