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 heari...

Full description

Saved in:
Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2010-09, Vol.74 (9), p.1049-1053
Main Authors: 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
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Data processing
Deafness
Enlarged vestibular aqueduct
Female
Forkhead Transcription Factors - genetics
FOXI1
Genetic Linkage
Haplotypes
Hearing Loss, Unilateral - genetics
Hearing Loss, Unilateral - pathology
Humans
Infant
Infant, Newborn
KCNJ10
Life Sciences
Male
Membrane Transport Proteins - genetics
Mutation
Otolaryngology
Pediatrics
Pedigree
Polymorphism, Genetic
Potassium Channels, Inwardly Rectifying - genetics
SLC26A4
Unilateral hearing loss
Vestibular Aqueduct - abnormalities
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2010.06.002