Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss | Zendy

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

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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Author(s) -

Yun Li,

Esther Pohl,

Redouane Boulouiz,

Margit Schraders,

Gudrun Nürnberg,

Majida Charif,

R.J.C. Admiraal,

Simon von Ameln,

Ingelore Baessmann,

Mostafa Kandil,

Joris A. Veltman,

Peter Nürnberg,

Christian Kubisch,

Abdelhamid Barakat,

Hannie Kremer,

Bernd Wollnik

Publication year - 2010

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2010.02.003

Subject(s) - genetics , frameshift mutation , disease gene identification , locus (genetics) , biology , exon , gene , hearing loss , loss function , candidate gene , phenotype , exome sequencing , medicine , audiology

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.

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