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Article

Phenotypic variability in a family with Townes-Brocks syndrome.

Journal of human genetics - 1 Aug 2010

Sudo Yosuke, Numakura Chikahiko, Abe Akiko, Aiba Satoru, Matsunaga Akira, Hayasaka Kiyoshi

Abstract excerpt

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterized by external ear anomalies with sensorineural hearing loss, limb anomalies, renal and anorectal malformations. TBS is caused by mutations in SALL1, a gene mapped to chromosome 16q12.1. We report three generations of a family with SALL1 c.1326delC (p.Ser442fs) mutation, showing increased clinical severity over generations. The members of...

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Source

Identifiers

PMID: 20520617
DOI: 10.1038/jhg.2010.64

Genes

SALL1

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