A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum

Archives of Otolaryngology - Head and Neck Surgery

Volumn 134, Issue 4, 2008, Pages 403-407

  Brownstein, Zippora N ^a   Dror, Amiel A ^a   Gilony, Dror ^a,b   Migirov, Lela ^b   Hirschberg, Koret ^a   Avraham, Karen B ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PENDRIN; YELLOW FLUORESCENT PROTEIN;

ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; SLC26A4 GENE; VESTIBULE AQUEDUCT;

ADULT; CASE-CONTROL STUDIES; CHILD; DEAFNESS; ENDOPLASMIC RETICULUM; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; IRAN; ISRAEL; JEWS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; VESTIBULAR AQUEDUCT;

EID: 42549158688     PISSN: 08864470     EISSN: 08864470     Source Type: Journal    
DOI: 10.1001/archotol.134.4.403     Document Type: Article

References (17)

1. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17(4):411-422.
2. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104(2):188-192.
3. Albert S, Blons H, Jonard L, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006;14(6):773-779.
4. Royaux IE, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology. 2000;141(2):839-845.
5. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999;21(4):440-443.
6. Soleimani M, Greeley T, Petrovic S, et al. Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol. 2001;280(2):F356-F364.
7. Scott DA, Karniski LP. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol. 2000;278(1):C207-C211.
8. Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/ SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001;17(5):403-411.
9. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003;11(12):916-922.
10. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42(2):159-165.
11. Sobe T, Vreugde S, Shahin H, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet. 2000;106(1):50-57.
12. Vincourt JB, Jullien D, Amalric F, Girard JP. Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules. FASEB J. 2003;17(8):890-892.
13. Rotman-Pikielny P, Hirschberg K, Maruvada P, et al. Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum Mol Genet. 2002;11(21):2625-2633.
14. Walsh T, Abu Rayan A, Abu Sa'ed J, et al. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics. 2006;2(4):203-211.
15. Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab. 2002;87(4):1778-1784.
16. Masmoudi S, Charfedine I, Hmani M, et al. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet. 2000;90(1):38-44.
17. Wu CC, Yeh TH, Chen PJ, Hsu CJ. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope. 2005;115(6):1060-1064.