Publication year
2010Source
Annals of Otology, Rhinology and Laryngology, 119, 12, (2010), pp. 830-835ISSN
Annotation
1 december 2010
Publication type
Article / Letter to editor

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Organization
Otorhinolaryngology
Journal title
Annals of Otology, Rhinology and Laryngology
Volume
vol. 119
Issue
iss. 12
Page start
p. 830
Page end
p. 835
Subject
DCN 2: Functional Neurogenomics; NCMLS 6: Genetics and epigenetic pathways of diseaseAbstract
OBJECTIVES: We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families. METHODS: Otologic and audiometric examinations were performed on affected members of each family. Genome-wide parametric multipoint linkage mapping using a recessive model was performed with Affymetrix 50K GeneChips or short tandem repeat polymorphisms. Direct sequencing was used to confirm the causative mutation in each family. RESULTS: In 2 Iranian families, L-1651 and L-8600606, with ARNSHL that mapped to the DFNB7/11 locus, homozygosity for a reported splice site mutation (c.776+1G>A), and a novel deletion (c.1589_1590delCT; p.S530*) were identified in the TMC1 gene, respectively. CONCLUSIONS: Consistent with the previously reported phenotype in DFNB7/11 families, the 2 Iranian families had segregated congenital, profound hearing impairment. However, in family L-1651, one affected family member (IV:3) has milder hearing impairment than expected, suggesting a potential genetic modifier effect. These results indicate that DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide.
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- Academic publications [205104]
- Faculty of Medical Sciences [81055]
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