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

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

American journal of human genetics (2010-02-23)
Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J C Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik
摘要

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 deletion is located in exon 1 and results in a frameshift and premature protein truncation (p.Gly15AlafsX150). Interestingly, the deleted sequence is part of a repetitive and CG-rich motive predicted to be prone to structural aberrations during crossover formation. We identified another family with progressive ARNSHL linked to this locus, whose affected members were shown to carry a causative 1 bp deletion (c.1347delG) in exon 1 of TPRN. The function of the encoded protein, taperin, is unknown; yet, partial homology to the actin-caping protein phostensin suggests a role in actin dynamics.