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

✍ Scribed by Ersan Kalay; Yun Li; Abdullah Uzumcu; Oya Uyguner; Rob W. Collin; Refik Caylan; Melike Ulubil-Emiroglu; Ferry F.J. Kersten; Gunter Hafiz; Erwin van Wijk; Hulya Kayserili; Edyta Rohmann; Janine Wagenstaller; Lies H. Hoefsloot; Tim M. Strom; Gudrun Nürnberg; Nermin Baserer; Anneke I. den Hollander; Frans P.M. Cremers; Cor W.R.J. Cremers; Christian Becker; Han G. Brunner; Peter Nürnberg; Ahmet Karaguzel; Seher Basaran; Christian Kubisch; Hannie Kremer; Bernd Wollnik

Book ID
102260285
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
487 KB
Volume
27
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Henrik Dahl

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.494C4T (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. r

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Identification of mutations in the conne
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc