Helmholtz Gemeinschaft

Search
Browse
Statistics
Feeds

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

Item Type:Article
Title:Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
Creators Name:Kalay, E. and Li, Y. and Uzumcu, A. and Uyguner, O. and Collin, R.W. and Caylan, R. and Ulubil-Emiroglu, M. and Kersten, F.F. and Hafiz, G. and van Wijk, E. and Kayserili, H. and Rohmann, E. and Wagenstaller, J. and Hoefsloot, L.H. and Strom, T.M. and Nuernberg, G. and Baserer, N. and den Hollander, A.I. and Cremers, F.P. and Cremers, C.W. and Becker, C. and Brunner, H.G. and Nuernberg, P. and Karaguzel, A. and Basaran, S. and Kubisch, C. and Kremer, H. and Wollnik, B.
Abstract:In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the 'hurry scurry' mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea. Hum Mutat 27(7), 633-639, 2006. (c) 2006 Wiley-Liss, Inc.
Keywords:Deafness, Hearing loss, Autosomal-recessive, Gene identification, LHFPL5
Source:Human Mutation
ISSN:1059-7794
Publisher:Wiley (U.K.)
Volume:27
Page Range:633-639
Date:July 2006
Official Publication:https://doi.org/10.1002/humu.20368
PubMed:View item in PubMed

Repository Staff Only: item control page

Open Access
MDC Library