High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel
| Autor: | Mordechai Shohat, Lina Basel-Vanagaite, Moien Kanaan, Alexander E Volk, Katrin Friedrich, Guntram Borck, Nurit Magal, Christian Kubisch, Limor Rainshtein, Ellen Taub, S Hellman-Aharony |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
medicine.medical_specialty
Hearing loss media_common.quotation_subject Nonsense Nonsense mutation Auditory neuropathy Genes Recessive Nerve Tissue Proteins Consanguinity Audiology Gene Frequency otorhinolaryngologic diseases Genetics medicine Humans Israel Hearing Loss Allele frequency Genetics (clinical) media_common business.industry Haplotype medicine.disease Arabs Pedigree Haplotypes Codon Nonsense medicine.symptom business Founder effect |
| Zdroj: | Clinical Genetics. 82:271-276 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/j.1399-0004.2011.01741.x |
| Popis: | Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. We have identified and clinically evaluated three consanguineous families of Israeli Arab origin with prelingual non-syndromic hearing impairment and absent otoacoustic emissions in a total of eight affected individuals. All the families originate from the same village and bear the same family name. We have identified a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene in affected individuals from these families. Among the inhabitants of the village, we found an exceptionally high carrier frequency of ~1 in 12 individuals (7/85; 8.2%). The high prevalence of hearing impairment can be explained by a founder effect and the high consanguinity rate among the inhabitants of this village. |
| Databáze: | OpenAIRE |
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