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

International Journal of Pediatric Otorhinolaryngology
Laurence JonardSandrine Marlin

Abstract

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). 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. 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. 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.

References

Mar 21, 1998·Nature Genetics·X C LiE R Wilcox
Jun 9, 1998·Annals of the New York Academy of Sciences·A MartiniW Kimberling
Mar 8, 2003·ORL; Journal for Oto-rhino-laryngology and Its Related Specialties·Rafael Ramírez-CamachoAlmudena Trinidad
Mar 19, 2003·International Journal of Audiology·L M LuxonW Reardon
Jun 1, 1960·Acta Oto-laryngologica·G EVERBERG
May 18, 2005·The Annals of Otology, Rhinology, and Laryngology·Frederik G DikkersMonique van Mechelen
Jan 19, 2006·Nature Reviews. Genetics·J V ChamaryLaurence D Hurst
Mar 30, 2006·European Journal of Human Genetics : EJHG·Sébastien AlbertFrançoise Denoyelle
Feb 21, 2007·Archives of Otolaryngology--head & Neck Surgery·Colm MaddenJohn Greinwald
Aug 11, 2007·Human Genetics·Hela AzaiezRichard J H Smith
May 16, 2008·Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale·Tyler MoriFrederick K Kozak

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Citations

Nov 26, 2011·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Taku ItoAndrew J Griffith
Jul 10, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·M BlanchardF Denoyelle
Oct 8, 2015·Otolaryngologic Clinics of North America·Judith E C Lieu
Aug 22, 2012·International Journal of Pediatric Otorhinolaryngology·Kaitian ChenHongyan Jiang
Oct 26, 2011·The Laryngoscope·Quinton GopenMargaret Kenna
Apr 17, 2016·Journal of Neurology·Lidia FrejoDan Rujescu
Nov 1, 2011·Clinical Biochemistry·L JonardUNKNOWN all the team of Centre de Référence des Surdités Génétiques, Hôpital Trousseau, APHP, Paris, France
Feb 7, 2013·International Journal of Pediatric Otorhinolaryngology·Gendong YaoDuan Ma
Oct 21, 2015·The Laryngoscope·Julie A MuskettAndrew J Griffith
Mar 14, 2012·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Kaitian ChenHongyan Jiang
Nov 26, 2011·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Adam LeeMarkus Paulmichl
May 28, 2013·World Journal of Otorhinolaryngology·Taku ItoAndrew J Griffith
Oct 22, 2019·The Laryngoscope·Kristianna MeyPer Cayé-Thomasen
May 25, 2020·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Yalan LiuYong Feng
Sep 11, 2020·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·F ForliS Berrettini
Dec 12, 2020·Laryngo- rhino- otologie·Sebastian RoeschSilvia Dossena
Jan 12, 2019·International Journal of Pediatric Otorhinolaryngology·Hunter D ArchibaldTodd Otteson
Aug 5, 2021·Human Genetics·Keiji Honda, Andrew J Griffith

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