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Article

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

2 Jun 2006

Abstract excerpt

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...

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PMID: 16752389
DOI: 10.1002/humu.20368

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