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Article

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Molecular medicine reports - 1 May 2016

Guo Dong-Feng, Li Ruo-Gu, Yuan Fang, Shi Hong-Yu, Hou Xu-Min, Qu Xin-Kai, Xu Ying-Jia, Zhang Min, Liu Xu, Jiang Jin-Qi, Yang Yi-Qing, Qiu Xing-Biao

Abstract excerpt

Previous genome-wide association studies have demonstrated that single nucleotide polymorphisms in T‑box (TBX)5 are associated with increased susceptibility to atrial fibrillation (AF), and a recent study has causally linked a TBX5 mutation to atypical Holt-Oram syndrome and paroxysmal AF. However, the prevalence and spectrum of TBX5 mutations in patients with AF remain to be elucidated. In the present study, a...

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Share to Abnormalities, Multiple
Share to Atrial Fibrillation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

Share to Homeobox Protein Nkx-2.5

Share to Mutation, Missense

Share to T-Box Domain Proteins

Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 27035640
DOI: 10.3892/mmr.2016.5043

Genes

TBX5

Variants

Provenance

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