The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis,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.)

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2021-08-31 , DOI: 10.1038/s10038-021-00974-2
Shanyu Pi ₁ , Jiaoe Gong ₂ , Wenbiao Xiao ₁ , Bo Xiao ₁ , Xiao Mao ₃ , Hongyu Long ₁

Affiliation

Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in our patient. This finding further identifies DDOST as a genetic cause of CDGs and expands the clinical phenotype of DDOST-CDG.

更新日期：2021-08-31

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11