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Collin, R.W.* ; Kalay, E.* ; Oostrik, J.* ; Caylan, R.* ; Wollnik, B.* ; Arslan, S.* ; den Hollander, A.I.* ; Birinci, Y.* ; Lichtner, P. ; Strom, T.M. ; Toraman, B.* ; Hoefsloot, L.H.* ; Cremers, C.W.* ; Brunner, H.G.* ; Cremers, F.P.* ; Karaguzel, A.* ; Kremer, H.*

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Hum. Mutat. 28, 718-723 (2007)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
In a consanguineous Turkish family, a locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1-2q33.1. Microsatellite marker analysis in the complete family determined the critical linkage interval that overlapped with DFNB27, for which the causative gene has not yet been identified, and DFNB59, a recently described auditory neuropathy caused by missense mutations in the DFNB59 gene. The 352-amino acid (aa) DFNB59 gene product pejvakin is present in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway. A novel homozygous nonsense mutation (c.499C>T; p.R167X) was detected in the DFNB59 gene, segregating with the deafness in the family. The mRNA derived from the mutant allele was found not to be degraded in lymphocytes, indicating that a truncated pejvakin protein of 166 aa may be present in the affected individuals. Screening of 67 index patients from additional consanguineous Turkish families with autosomal recessive hearing impairment revealed a homozygous missense mutation (c.547C>T; p.R183W) that segregates with the hearing impairment in one family. Furthermore, in a panel of 83 Dutch patients, two additional novel mutations (c.509_512delCACT; p.S170CfsX35 and c.731T>G; p.L244R), which were not present in ethnically matched controls, were found heterozygously. Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter DFNB59; pejvakin; nonsyndromic hearing loss; ARNSHI; consanguineous; deafness
Sprache englisch
Veröffentlichungsjahr 2007
HGF-Berichtsjahr 2007
ISSN (print) / ISBN 1059-7794
e-ISSN 1098-1004
Zeitschrift Human Mutation
Quellenangaben Band: 28, Heft: 7, Seiten: 718-723 Artikelnummer: , Supplement: ,
Verlag Wiley
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
PubMed ID 17373699
DOI 10.1002/humu.20510
WOS ID 000247627200012
Scopus ID 34447260468
Erfassungsdatum 2007-07-22
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