Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
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.
Jonard
Laurence
L
AP-HP, Centre de Référence des Surdités Généttiques, Hôpital Armand-Trousseau, Paris, France.
Niasme-Grare
Magali
M
Bonnet
Crystel
C
Feldmann
Delphine
D
Rouillon
Isabelle
I
Loundon
Natalie
N
Calais
Catherine
C
Catros
Hélène
H
David
Albert
A
Dollfus
Hélène
H
Drouin-Garraud
Valérie
V
Duriez
Françoise
F
Eliot
Marie Madeleine
MM
Fellmann
Florence
F
Francannet
Christine
C
Gilbert-Dussardier
Brigitte
B
Gohler
Catherine
C
Goizet
Cyril
C
Journel
Hubert
H
Mom
Thierry
T
Thuillier-Obstoy
Marie-Françoise
MF
Couderc
Remy
R
Garabédian
Eréa Noël
EN
Denoyelle
Françoise
F
Marlin
Sandrine
S
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
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