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

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 no...

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Bibliographic Details
Published inJournal of human genetics Vol. 65; no. 12; pp. 1129 - 1134
Main Authors Bian, Yue, Qiao, Chong, Zheng, ShuGuang, Qiu, Hao, Li, Huan, Zhang, ZhiTao, Yin, ShaoWei, Jiang, HongKun, Li-Ling, Jesse, Liu, CaiXia, Lyu, Yuan
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group 01.12.2020
Springer Singapore
Subjects
Brief Communication
Central nervous system
Congenital diseases
Glycosylation
Phenotypes
Siblings
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Summary: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.
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ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-020-0798-7