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Article

Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.

American journal of medical genetics. Part A - 1 Aug 2021

Qian Yeqing, Hu Gang, Chen Min, Liu Bei, Yan Kai, Zhou Caiyun, Yu Yanqin, Dong Minyue

Abstract excerpt

Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosomal recessive achondrogenesis type IA (ACG1A, OMIM: 200600) or osteochondrodysplasia (ODCD, OMIM: 184260). In this clinical report of a Chinese family, the mother had two consecutive pregnancies with similar aberrant phenotypes in the fetuses showing severe limb shortening. Whole...

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PMID: 34014608
DOI: 10.1002/ajmg.a.62260

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