Literature DB >> 12112665

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

N López-Bigas1, S Melchionda, R de Cid, A Grifa, L Zelante, N Govea, M L Arbonés, P Gasparini, X Estivill.   

Abstract

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5). Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12112665     DOI: 10.1002/humu.9043

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  8 in total

1.  Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.

Authors:  F Bogazzi; D Russo; F Raggi; F Ultimieri; S Berrettini; F Forli; L Grasso; C Ceccarelli; S Mariotti; A Pinchera; L Bartalena; E Martino
Journal:  J Endocrinol Invest       Date:  2004-05       Impact factor: 4.256

2.  Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Authors:  Byung Yoon Choi; Andrew K Stewart; Anne C Madeo; Shannon P Pryor; Suzanne Lenhard; Rick Kittles; David Eisenman; H Jeffrey Kim; John Niparko; James Thomsen; Kathleen S Arnos; Walter E Nance; Kelly A King; Christopher K Zalewski; Carmen C Brewer; Thomas Shawker; James C Reynolds; John A Butman; Lawrence P Karniski; Seth L Alper; Andrew J Griffith
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

3.  Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Authors:  Fernando Palos; María E R García-Rendueles; David Araujo-Vilar; Maria Jesús Obregon; Rosa Maria Calvo; Jose Cameselle-Teijeiro; Susana B Bravo; Oscar Perez-Guerra; Lourdes Loidi; Barbara Czarnocka; Paula Alvarez; Samuel Refetoff; Lourdes Dominguez-Gerpe; Clara V Alvarez; Joaquin Lado-Abeal
Journal:  J Clin Endocrinol Metab       Date:  2007-10-16       Impact factor: 5.958

4.  Genotype-phenotype correlations for SLC26A4-related deafness.

Authors:  Hela Azaiez; Tao Yang; Sai Prasad; Jessica L Sorensen; Carla J Nishimura; William J Kimberling; Richard J H Smith
Journal:  Hum Genet       Date:  2007-08-10       Impact factor: 4.132

5.  Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Authors:  T Snabboon; W Plengpanich; S Saengpanich; S Sirisalipoch; S Keelawat; S Sunthornyothin; W Khovidhunkit; S Suwanwalaikorn; V Sridama; V Shotelersuk
Journal:  J Endocrinol Invest       Date:  2007-12       Impact factor: 4.256

Review 6.  Genetic factors that might lead to different responses in individuals exposed to perchlorate.

Authors:  Franco Scinicariello; H Edward Murray; Lester Smith; Sharon Wilbur; Bruce A Fowler
Journal:  Environ Health Perspect       Date:  2005-11       Impact factor: 9.031

7.  Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Authors:  Naif A M Almontashiri; Abdulrahman Alswaid; Andrea Oza; Khalid A Al-Mazrou; Omnia Elrehim; Ahmad Abou Tayoun; Heidi L Rehm; Sami S Amr
Journal:  Genet Med       Date:  2017-10-19       Impact factor: 8.822

8.  Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.

Authors:  Yongan Tian; Hongen Xu; Danhua Liu; Juanli Zhang; Zengguang Yang; Sen Zhang; Huanfei Liu; Ruijun Li; Yingtao Tian; Beiping Zeng; Tong Li; Qianyu Lin; Haili Wang; Xiaohua Li; Wei Lu; Ying Shi; Yan Zhang; Hui Zhang; Chang Jiang; Ying Xu; Bei Chen; Jun Liu; Wenxue Tang
Journal:  Mol Genet Genomic Med       Date:  2021-06-25       Impact factor: 2.183

  8 in total

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