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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Sébastien Albert 1 Hélène Blons 2 Laurence Jonard 2 Delphine Feldmann 2, 3 Pierre Chauvin 4 Nathalie Loundon 3 Annie Sergent-Allaoui 5 Muriel Houang 6 Alain Joannard 7 Sébastien Schmerber 8 Bruno Delobel 9 Jacques Leman 10 Hubert Journel 11 Hélène Catros 12 Hélène Dollfus 13 Marie-Madeleine Eliot 14 Albert David 15 Catherine Calais 16 Valérie Drouin-Garraud 17 Marie-Françoise Obstoy 18 Patrice Tran Ba Huy 19 Didier Lacombe 20 Françoise Duriez 21 Christine Francannet 22 Pierre Bitoun 23 Christine Petit 3, 24 Eréa-Noël Garabédian 1, 3 Rémy Couderc 2, 3 Sandrine Marlin 3, 25 Françoise Denoyelle 1, 3
Abstract : Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). While the prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established, it remains to be studied in large cohorts of patients with nonsyndromic deafness and detailed clinical informations. In this report, 109 patients from 100 unrelated families, aged from 1 to 32 years (median age: 10 years), with nonsyndromic deafness and enlarged vestibular aqueduct, were genotyped for SLC26A4 using DHPLC molecular screening and sequencing. In all, 91 allelic variants were observed in 100 unrelated families, of which 19 have never been reported. The prevalence of SLC26A4 mutations was 40% (40/100), with biallelic mutation in 24% (24/100), while six families were homozygous. All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease. Among patients with SLC26A4 biallelic mutations, deafness was more severe, fluctuated more than in patients with no mutation. In conclusion, the incidence of SLC26A4 mutations is high in patients with isolated deafness and enlarged vestibular aqueduct and could represent up to 4% of nonsyndromic hearing impairment. SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population.
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https://www.hal.inserm.fr/inserm-00102388
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Submitted on : Friday, September 29, 2006 - 8:28:29 PM
Last modification on : Wednesday, September 23, 2020 - 4:34:18 AM

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Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, et al.. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.. European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩. ⟨inserm-00102388⟩

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