Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) - PubMed (original) (raw)
B Glaser, J C Beck, J R Idol, A Buchs, M Heyman, F Adawi, E Hazani, E Nassir, A D Baxevanis, V C Sheffield, E D Green
Affiliations
- PMID: 9398842
- DOI: 10.1038/ng1297-411
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
L A Everett et al. Nat Genet. 1997 Dec.
Abstract
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By some estimates, the disorder may account for upwards of 10% of hereditary deafness. Previous genetic linkage studies localized the gene to a broad interval on human chromosome 7q22-31.1. Using a positional cloning strategy, we have identified the gene (PDS) mutated in Pendred syndrome and found three apparently deleterious mutations, each segregating with the disease in the respective families in which they occur. PDS produces a transcript of approximately 5 kb that was found to be expressed at significant levels only in the thyroid. The predicted protein, pendrin, is closely related to a number of known sulphate transporters. These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.
Similar articles
- The Pendred syndrome gene encodes a chloride-iodide transport protein.
Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. Scott DA, et al. Nat Genet. 1999 Apr;21(4):440-3. doi: 10.1038/7783. Nat Genet. 1999. PMID: 10192399 - Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H. Masmoudi S, et al. Am J Med Genet. 2000 Jan 3;90(1):38-44. Am J Med Genet. 2000. PMID: 10602116 - Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.
Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C. Waldegger S, et al. Genomics. 2001 Feb 15;72(1):43-50. doi: 10.1006/geno.2000.6445. Genomics. 2001. PMID: 11247665 - Pendred syndrome.
Glaser B. Glaser B. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Pediatr Endocrinol Rev. 2003. PMID: 16444159 Review. - The role of pendrin in iodide regulation.
Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-Peccoz P. Fugazzola L, et al. Exp Clin Endocrinol Diabetes. 2001;109(1):18-22. doi: 10.1055/s-2001-11008. Exp Clin Endocrinol Diabetes. 2001. PMID: 11573133 Review.
Cited by
- The role of SLC26A4 in bony labyrinth development and otoconial mineralization in mouse models.
Ito T, Watanabe H, Honda K, Fujikawa T, Kitamura K, Tsutsumi T. Ito T, et al. Front Mol Neurosci. 2024 Apr 29;17:1384764. doi: 10.3389/fnmol.2024.1384764. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38742227 Free PMC article. Review. - Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S, Kojima T, Wasano K, Homma K. Takahashi S, et al. Int J Mol Sci. 2024 Feb 27;25(5):2759. doi: 10.3390/ijms25052759. Int J Mol Sci. 2024. PMID: 38474007 Free PMC article. - The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S, El-Akouri K, Al-Dewik N, Khodjet-El-Khil H, Okashah S, Islam N, Ben-Omran T, Al-Shafai M. Alkhidir S, et al. Sci Rep. 2024 Feb 20;14(1):4202. doi: 10.1038/s41598-024-52784-z. Sci Rep. 2024. PMID: 38378725 Free PMC article. - Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
Li YQ, Ma H, Wang QY, Liu DS, Wang W, Li SX, Zuo RX, Shen T, Zhu BS, Sa YL. Li YQ, et al. BMC Med Genomics. 2024 Feb 20;17(1):55. doi: 10.1186/s12920-024-01829-3. BMC Med Genomics. 2024. PMID: 38378613 Free PMC article. - Mechanism of anion exchange and small-molecule inhibition of pendrin.
Wang L, Hoang A, Gil-Iturbe E, Laganowsky A, Quick M, Zhou M. Wang L, et al. Nat Commun. 2024 Jan 6;15(1):346. doi: 10.1038/s41467-023-44612-1. Nat Commun. 2024. PMID: 38184688 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous