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Article

A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7.

Human mutation - 1 Jan 2026

Xu Chenyang, Nie Zhipeng, Wang Suyang, Zhu Yiming, Liu Xiaowen, Guo Yufen

Abstract excerpt

Pathogenic variants in the LIM-homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel heterozygous frameshift variant, LMX1A c.405delT (p.Phe135LeufsTer3), identified in a three-generation Chinese family, cosegregating with progressive and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42253511
DOI: 10.1155/humu/9930672
PMCID: PMC13240465

Genes

LMX1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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