Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Abstract

Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.

• Authors: S Usami, S Abe, M D Weston, H Shinkawa, G Van Camp, W J Kimberling
• Journal: Human genetics (Hum Genet) Vol. 104 Issue 2 Pg. 188-92 (Feb 1999) ISSN: 0340-6717 [Print] Germany
• PMID: 10190331 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Carrier Proteins
• Membrane Transport Proteins
• SLC26A4 protein, human
• Sulfate Transporters

Topics

• Carrier Proteins (genetics)
• Female
• Frameshift Mutation
• Genes, Recessive
• Hearing Loss, Sensorineural (genetics)
• Humans
• Male
• Membrane Transport Proteins
• Mutation, Missense
• Pedigree
• Sulfate Transporters
• Syndrome
• Vestibular Aqueduct