PubMed 20621367

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Automatically associated channels: Kir1.1 , Kir4.1

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

Authors: Laurence Jonard, Magali Niasme-Grare, Crystel Bonnet, Delphine Feldmann, Isabelle Rouillon, Natalie Loundon, Catherine Calais, Hélène Catros, Albert David, Hélène Dollfus, Valérie Drouin-Garraud, Françoise Duriez, Marie Madeleine Eliot, Florence Fellmann, Christine Francannet, Brigitte Gilbert-Dussardier, Catherine Gohler, Cyril Goizet, Hubert Journel, Thierry Mom, Marie-Françoise Thuillier-Obstoy, Remy Couderc, Eréa Noël Garabédian, Françoise Denoyelle, Sandrine Marlin

Journal, date & volume: Int. J. Pediatr. Otorhinolaryngol., 2010 Sep , 74, 1049-53

PubMed link:

To investigate the implication of SLC26A4, FOXI and KCNJ10 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 SLC26A4, FOXI1 and KCNJ10 genes sequences.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 FOXI1 and KCNJ10 genes.Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 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.