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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
American Journal of Human Genetics, Volume 86, No. 3, Year 2010
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Description
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. © 2010 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2833376/bin/mmc1.pdf
Authors & Co-Authors
Li, Yun
Germany, Koln
Universität zu Köln
Pohl, Esther
Germany, Koln
Universität zu Köln
Boulouiz, Redouane
Morocco, Casablanca
Institut Pasteur du Maroc
Schraders, Margit
Netherlands, Nijmegen
Radboud University Medical Center
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Netherlands, Nijmegen
Donders Institute for Brain, Cognition and Behaviour
Nürnberg, Gudrun
Germany, Koln
Medizinische Fakultät
Germany, Koln
Universität zu Köln
Charif, Majida
Morocco, Casablanca
Institut Pasteur du Maroc
Admiraal, Ronald J.C.
Netherlands, Nijmegen
Radboud University Medical Center
Netherlands, Nijmegen
Donders Institute for Brain, Cognition and Behaviour
von Ameln, Simon
Germany, Koln
Universität zu Köln
Baessmann, Ingelore
Germany, Koln
Medizinische Fakultät
Kandil, Mostafa
Morocco, El Jadida
Faculté Des Sciences D'el Jadida
Veltman, J. A.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Netherlands, Nijmegen
Radboud University Medical Center
Nürnberg, Peter
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Kubisch, Christian
Germany, Koln
Universität zu Köln
Barakat, Abdelhamid
Morocco, Casablanca
Institut Pasteur du Maroc
Kremer, Hannie P.H.
Netherlands, Nijmegen
Radboud University Medical Center
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Netherlands, Nijmegen
Donders Institute for Brain, Cognition and Behaviour
Wollnik, Bernd
Germany, Koln
Universität zu Köln
Statistics
Citations: 53
Authors: 16
Affiliations: 7
Identifiers
Doi:
10.1016/j.ajhg.2010.02.003
ISSN:
00029297
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health
Study Locations
Morocco