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Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

25 Aug 2020

Abstract excerpt

LMX1A, encoding the LIM homeobox transcription factor, is essential for inner ear development. Despite previous reports of three human LMX1A variants with nonsyndromic hearing loss (NSHL) in the literature, functional characterization of these variants has never been performed. Encouraged by identification of a de novo, heterozygous, missense variant (c.595A > G; p.Arg199Gly) located in the homeodomain of LMX1A...

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PMID: 32840933
DOI: 10.1002/humu.24095

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