Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

ABSTRACT:

Background

Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles.

Methods and results

In this study, the authors were unable to detect occult SLC26A4 mutations in EVA patients with non-diagnostic genotypes by custom comparative genomic hybridisation (CGH) microarray analysis or by sequence analysis of conserved non-coding regions. The authors sought to compare the segregation of EVA among 71 families with two (M2), one (M1) or no (M0) detectable mutant alleles of SLC26A4. The segregation ratios of EVA in the M1 and M2 groups were similar, but the segregation ratio for M1 was s

SUBMITTER: Choi BY 

PROVIDER: S-EPMC2941511 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature