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

Archive ouverte

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

Edité par CCSD ; Elsevier -

International audience. Objective: 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).Methods: 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.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 FOXI1 and KCNJ10 genes.Conclusions: 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.

• Description
• Sujet/Public
• Outil
• Outil d'anticipation
• Mémoire et thèse
• Gestion