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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., Li, Y., Uzumcu, A., Uyguner, O., Collin, R.W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F.F., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., Wagenstaller, J., Hoefsloot, L.H., Strom, T.M., Nuernberg, G., Baserer, N., den Hollander, A.I., Cremers, F.P., Cremers, C.W., Becker, C., Brunner, H.G., Nuernberg, P., Karaguzel, A., Basaran, S., Kubisch, C., 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
Page Range:633-639
Date:July 2006
Official Publication:https://doi.org/10.1002/humu.20368
PubMed:View item in PubMed

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