Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts

Launched by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS (NIDCD) · Aug 21, 2001

Keywords

ClinConnect Summary

Nonsyndromic hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of at least 60 different genes. Enlargement of the vestibular aqueduct (EVA) is a radiologic finding known to be associated with mutations in one of these genes, the Pendred syndrome gene (SLC26A4, formerly known as PDS). EVA may thus serve as a clinically useful marker to facilitate the diagnosis of hearing impairment. Recent data from our laboratory and others indicates that only a subset of individuals with EVA have SLC26A4 mutations, and therefore some EVA cases ...

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Subjects must have or be a family member of a participant with known or non-syndromic SNHL associated with EVA or have evidence of other findings that suggest that EVA might be part of a novel phenotype
• • There must be at least two participating affected family members with one exception: if there is only one participating affected family member, there must be genetic test results identifying only one pathogenic mutant allele of SLC26A4
• • Adults must be able to provide informed consent
• • Minors must have a parent or guardian able to provide consent
• • Age between 0-99.
• EXCLUSION CRITERIA:
• • Subjects with known exposure to physical or chemical teratogens in utero that could account for their inner ear malformations such as thalidomide or radiation
• • Any hearing loss that is associated with symptoms which meet the criteria of already known syndromes, such as, branchio-oto-renal (BOR) syndrome, which comprises system malformations and branchial cleft abnormalities and is caused by heterozygous mutations in the EYA1 gene.
• • Previous genetic testing identifying two pathogenic mutant alleles of SLC26A4.
• • Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled.