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

Abstract Objective To investigate the implication of SLC26A4 , FOXI and KCNJ10genes in unilateralhearing impairment associated with ipsilateral inner earmalformation ( Enlargementof the vestibular aqueductand/or Mondini dysplasia). Methods We have gathered 25 patients presenting unilateralhearing impairment and ipsilateral enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1and KCNJ10genes sequences. Results The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover, the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1and KCNJ10genes. Conclusions Together, these data suggest that SLC26A4 , FOXI1and KCNJ10are not major determinants in unilateraldeafness and enlarged vestibular aqueductcompared with their implication in Pendred syndromeand non-syndromic bilateral enlarged vestibular aqueduct.