Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

[pendred syndrome]

Mutations in the SLC 26 A 4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct , two conditions associated with sensorineural hearing loss . We analyzed the SLC 26 A 4 gene in 44 hearing -impaired patients by nested polymerase chain reaction followed by high -resolution melt analysis . We also used this approach to scan for mutations in KCNJ 10 and FOXI 1 , two genes reported to play a role in the pathogenesis of Pendred syndrome and enlarged vestibular aqueduct . Seven patients with known SLC 26 A 4 mutations were included as controls . All previously identified mutations were detected by high -resolution melt analysis . Of the patients with no known mutations , we detected two SLC 26 A 4 mutations in 5 probands (12 %), one mutation in 9 probands (21 %), and no mutations in 29 probands (67 %). We identified two novel SLC 26 A 4 mutations , p .T 485 M and p .F 7 18 S , and found no evidence of a digenic contribution of KCNJ 10 and FOXI 1 mutations .