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Article

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Molecular genetics & genomic medicine - 1 Jan 2021

Lei Cheng, Guo Ting, Ding Shuizi, Liao Liyan, Peng Hong, Tan Zhiping, Luo Hong

Abstract excerpt

BACKGROUND: Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous/compound heterozygous variants in the aspartate/asparagine-β-hydroxylase (ASPH) gene, which hydroxylates the aspartic acid and asparagine in epidermal growth factor-like domains of various proteins. METHODS:...

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PMID: 33217155
DOI: 10.1002/mgg3.1553
PMCID: PMC7963421

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