Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

[pendred syndrome]

To investigate the implication of SLC 26 A 4 , FOXI and KCNJ 10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and /or Mondini dysplasia ).We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct . For each of the patients , we have analyzed SLC 26 A 4 , FOXI 1 and KCNJ 10 genes sequences .The analysis of SLC 26 A 4 revealed only eight heterozygous SLC 26 A 4 sequence variants , three of them being novel (p .Met 147 Ile , p .Asn 538 Asn and p .Leu 627 Arg ). None of the patients carried a second mutation on the other allele . Moreover , the SLC 26 A 4 locus was excluded by segregation analysis in two families . No mutations were present in FOXI 1 and KCNJ 10 genes .Together , these data suggest that SLC 26 A 4 , FOXI 1 and KCNJ 10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct .

Diseases
Validation

Diseases presenting "second mutation on the other allele" symptom

pendred syndrome

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