title: A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
abstract: Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe-profound congenital non-progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi-Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community.
authors.affiliation: Pediatric Neurology Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel. simon@hadassah.org.il
authors.forename: S
authors.initials: S
authors.lastname: Edvardson
authors.forename: C
authors.initials: C
authors.lastname: Jalas
authors.forename: A
authors.initials: A
authors.lastname: Shaag
authors.forename: S
authors.initials: S
authors.lastname: Zenvirt
authors.forename: C
authors.initials: C
authors.lastname: Landau
authors.forename: I
authors.initials: I
authors.lastname: Lerer
authors.forename: O
authors.initials: O
authors.lastname: Elpeleg
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D017931:DNA Primers; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; C543906:LOXHD1 protein, human; D000072259:Connexin 26