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

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
International Journal of Pediatric Otorhinolaryngology. 2010-09-01; 74(9): 1049-1053
DOI: 10.1016/J.IJPORL.2010.06.002


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1. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi:
10.1016/j.ijporl.2010.06.002.

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

Jonard L(1), Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais
C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann
F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T,
Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S.

Author information:
(1)AP-HP, Centre de Référence des Surdités Généttiques, Hôpital Armand-Trousseau,
Paris, France.

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.

Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

DOI: 10.1016/j.ijporl.2010.06.002
PMID: 20621367 [Indexed for MEDLINE]

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