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Article

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

American journal of human genetics - 12 Mar 2010

Li Yun, Pohl Esther, Boulouiz Redouane, Schraders Margit, Nürnberg Gudrun, Charif Majida, Admiraal Ronald J C, von Ameln Simon, Baessmann Ingelore, Kandil Mostafa, Veltman Joris A, Nürnberg Peter, Kubisch Christian, Barakat Abdelhamid, Kremer Hannie, Wollnik Bernd

Abstract excerpt

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79 locus on chromosome 9q34. By sequencing of 62 positional candidate genes of the critical region, we identified a causative homozygous 11 bp deletion, c.42_52del, in the TPRN gene in all seven affected individuals. The...

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Source

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Identifiers

PMID: 20170898
DOI: 10.1016/j.ajhg.2010.02.003
PMCID: PMC2833376

Genes

TPRN

Variants

Provenance

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Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.PMID 20170898Read ↗

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