Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
2010 | journal article; research paper. A publication with affiliation to the University of Göttingen.
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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
Li, Y. ; Pohl, E.; Boulouiz, R.; Schraders, M.; Nürnberg, G.; Charif, M. & Admiraal, R. J. C. et al. (2010)
American journal of human genetics, 86(3) pp. 479-484. DOI: https://doi.org/10.1016/j.ajhg.2010.02.003
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- Authors
- 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; Wolinik, Bernd
- Abstract
- 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 fort-nation. 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.
- Issue Date
- 2010
- Publisher
- Cell Press
- Journal
- American journal of human genetics
- ISSN
- 0002-9297