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

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

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

Standard

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

in: AM J HUM GENET, Jahrgang 86, Nr. 3, 3, 2010, S. 479-484.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Li, Y, Pohl, E, Boulouiz, R, Schraders, M, Nürnberg, G, Charif, M, Admiraal, RJC, von Ameln, S, Baessmann, I, Kandil, M, Veltman, JA, Nürnberg, P, Kubisch, C, Barakat, A, Kremer, H & Wollnik, B 2010, 'Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.', AM J HUM GENET, Jg. 86, Nr. 3, 3, S. 479-484. <http://www.ncbi.nlm.nih.gov/pubmed/20170898?dopt=Citation>

APA

Li, Y., Pohl, E., Boulouiz, R., Schraders, M., Nürnberg, G., Charif, M., Admiraal, R. J. C., von Ameln, S., Baessmann, I., Kandil, M., Veltman, J. A., Nürnberg, P., Kubisch, C., Barakat, A., Kremer, H., & Wollnik, B. (2010). Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. AM J HUM GENET, 86(3), 479-484. [3]. http://www.ncbi.nlm.nih.gov/pubmed/20170898?dopt=Citation

Vancouver

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M et al. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. AM J HUM GENET. 2010;86(3):479-484. 3.

Bibtex

@article{1afdba8d50f8426994b305ff829707fb,

title = "Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.",

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 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.",

keywords = "Animals, Humans, Male, Female, Mice, Amino Acid Sequence, Base Sequence, Gene Expression, Genes, Recessive, Homozygote, Pedigree, Sequence Deletion, Consanguinity, Chromosome Mapping, DNA Primers/genetics, Exons, *Mutation, Chromosomes, Human, Pair 9/genetics, DNA/genetics, Cochlea/metabolism, Frameshift Mutation, Hearing Loss/congenital/*genetics, Morocco, Proteins/*genetics, Animals, Humans, Male, Female, Mice, Amino Acid Sequence, Base Sequence, Gene Expression, Genes, Recessive, Homozygote, Pedigree, Sequence Deletion, Consanguinity, Chromosome Mapping, DNA Primers/genetics, Exons, *Mutation, Chromosomes, Human, Pair 9/genetics, DNA/genetics, Cochlea/metabolism, Frameshift Mutation, Hearing Loss/congenital/*genetics, Morocco, Proteins/*genetics",

author = "Yun Li and Esther Pohl and Redouane Boulouiz and Margit Schraders and Gudrun N{\"u}rnberg and Majida Charif and Admiraal, {Ronald J C} and {von Ameln}, Simon and Ingelore Baessmann and Mostafa Kandil and Veltman, {Joris A} and Peter N{\"u}rnberg and Christian Kubisch and Abdelhamid Barakat and Hannie Kremer and Bernd Wollnik",

year = "2010",

language = "English",

volume = "86",

pages = "479--484",

journal = "AM J HUM GENET",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

RIS

TY - JOUR

T1 - Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

AU - Li, Yun

AU - Pohl, Esther

AU - Boulouiz, Redouane

AU - Schraders, Margit

AU - Nürnberg, Gudrun

AU - Charif, Majida

AU - Admiraal, Ronald J C

AU - von Ameln, Simon

AU - Baessmann, Ingelore

AU - Kandil, Mostafa

AU - Veltman, Joris A

AU - Nürnberg, Peter

AU - Kubisch, Christian

AU - Barakat, Abdelhamid

AU - Kremer, Hannie

AU - Wollnik, Bernd

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Animals

KW - Humans

KW - Male

KW - Female

KW - Mice

KW - Amino Acid Sequence

KW - Base Sequence

KW - Gene Expression

KW - Genes, Recessive

KW - Homozygote

KW - Pedigree

KW - Sequence Deletion

KW - Consanguinity

KW - Chromosome Mapping

KW - DNA Primers/genetics

KW - Exons

KW - Mutation

KW - Chromosomes, Human, Pair 9/genetics

KW - DNA/genetics

KW - Cochlea/metabolism

KW - Frameshift Mutation

KW - Hearing Loss/congenital/genetics

KW - Morocco

KW - Proteins/genetics