ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.,Journal of Human Genetics

当前位置： X-MOL 学术 › J. Hum. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2020-07-12 , DOI: 10.1038/s10038-020-0798-7
Yue Bian _{1,

2} , Chong Qiao _{1,

2} , ShuGuang Zheng ₃ , Hao Qiu ₄ , Huan Li ₁ , ZhiTao Zhang ₁ , ShaoWei Yin ₁ , HongKun Jiang ₅ , Jesse Li-Ling ₆ , CaiXia Liu _{1,

2} , Yuan Lyu _{1,

2}

Affiliation

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.

更新日期：2020-07-13

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南

全部期刊列表>>