Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the TRAPPC2 gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the function of the variant in an attempt to explain the...

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Bibliographic Details
Main Authors: Guiyu Lou, Yuanyin Zhao, Huiru Zhao, Yuwei Zhang, Bingtao Hao, Litao Qin, Hongyan Liu, Shixiu Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
X-linked spondyloepiphyseal dysplasia tarda
TRAPPC2
COL2A1
whole-exome sequencing
nonsense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1216592/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1216592/full

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