title: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
abstract: Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred's syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.
authors.affiliation: Service de biochimie et de biologie moléculaire, Hôpital d'Enfants Armnd-Trousseau, AP-HP, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Blons
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: V
authors.initials: V
authors.lastname: Duval
authors.forename: O
authors.initials: O
authors.lastname: Messaz
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
authors.forename: N
authors.initials: N
authors.lastname: Loundon
authors.forename: A
authors.initials: A
authors.lastname: Sergout-Allaoui
authors.forename: M
authors.initials: M
authors.lastname: Houang
authors.forename: F
authors.initials: F
authors.lastname: Duriez
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: J
authors.initials: J
authors.lastname: Leman
authors.forename: H
authors.initials: H
authors.lastname: Catros
authors.forename: H
authors.initials: H
authors.lastname: Journel
authors.forename: V
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: M-F
authors.initials: MF
authors.lastname: Obstoy
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: S
authors.initials: S
authors.lastname: Oden
authors.forename: J E
authors.initials: JE
authors.lastname: Toublanc
authors.forename: R
authors.initials: R
authors.lastname: Couderc
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: E-N
authors.initials: EN
authors.lastname: Garabédian
authors.forename: S
authors.initials: S
authors.lastname: Marlin
mesh_terms: D000293:Adolescent; D000328:Adult; D001692:Biological Transport; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France / Q000453:epidemiology; D018740:Genetic Heterogeneity; D006042:Goiter / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D034381:Hearing Loss / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008403:Mass Screening; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000076988:Sulfate Transporters; D013577:Syndrome; D014723:Vestibular Aqueduct / Q000473:pathology
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters