title: 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 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.
authors.affiliation: AP-HP, Centre de Référence des Surdités Généttiques, Hôpital Armand-Trousseau, Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Jonard
authors.forename: Magali
authors.initials: M
authors.lastname: Niasme-Grare
authors.forename: Crystel
authors.initials: C
authors.lastname: Bonnet
authors.forename: Delphine
authors.initials: D
authors.lastname: Feldmann
authors.forename: Isabelle
authors.initials: I
authors.lastname: Rouillon
authors.forename: Natalie
authors.initials: N
authors.lastname: Loundon
authors.forename: Catherine
authors.initials: C
authors.lastname: Calais
authors.forename: Hélène
authors.initials: H
authors.lastname: Catros
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Valérie
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: Françoise
authors.initials: F
authors.lastname: Duriez
authors.forename: Marie Madeleine
authors.initials: MM
authors.lastname: Eliot
authors.forename: Florence
authors.initials: F
authors.lastname: Fellmann
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Catherine
authors.initials: C
authors.lastname: Gohler
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Thierry
authors.initials: T
authors.lastname: Mom
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Thuillier-Obstoy
authors.forename: Remy
authors.initials: R
authors.lastname: Couderc
authors.forename: Eréa Noël
authors.initials: EN
authors.lastname: Garabédian
authors.forename: Françoise
authors.initials: F
authors.lastname: Denoyelle
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes; D046088:Hearing Loss, Unilateral / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*; D055815:Young Adult; D000098854:Kcnj10 Channel
chemical_list: C477894:FOXI1 protein, human; D051858:Forkhead Transcription Factors; D000098854:Kcnj10 Channel; D026901:Membrane Transport Proteins; D024661:Potassium Channels, Inwardly Rectifying; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters