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 "hearing impairment" symptom

22q11.2 deletion syndrome

achondroplasia

benign recurrent intrahepatic cholestasis

canavan disease

congenital diaphragmatic hernia

dentinogenesis imperfecta

hirschsprung disease

kabuki syndrome

kallmann syndrome

monosomy 21

oligodontia

pendred syndrome

zellweger syndrome

This symptom has already been validated