Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Nature Genetics

Volumn 17, Issue 4, 1997, Pages 411-422

  Everett, Lorraine A ^a   Glaser, Benjamin ^b   Beck, John C ^c   Idol, Jacquelyn R ^a   Buchs, Andreas ^b   Heyman, Ma'ayan ^b   Adawi, Faiad ^d   Hazani, Elizur ^e   Nassir, Elias ^e   Baxevanis, Andreas D ^a   Sheffield, Val C ^c   Green, Eric D ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF IOWA   (United States)

^d Department of Endocrinology   (Israel)

^e Nahariya Hospital Israel   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SULFATE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN ANALYSIS;

EID: 16944366606     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1297-411     Document Type: Article

References (14)

1. Pendred, V. Deaf-mutism and goitre. Lancet ii. 532 (1896).
2. Reardon, W. & Trembath, R.C. Pendred syndrome. J. Med. Genet. 33, 1037-1040 (1996).
3. Reardon, W. et al. Pendred syndrome: 100 years of underascertainment? Q. J. Med. 90, 443-447 (1997).
4. Fraser, G.R. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann. Hum. Genet. 28, 201-249 (1965).
5. Batsakis, J.G. & Nishiyama, R.H. Deafness with sporadic goiter. Arch. Otolaryngol. 76, 401-406 (1962).
6. Ilium, P., Kiaer, H.W., Hvidberg-Hansen, J. & Sondergaard, G. Fifteen cases of Pendred's syndrome: congenital deafness and sporadic goiter. Arch. Otolaryngol. 96, 297-304 (1972).
7. Johnsen, T., Sorensen, M.S., Feldt-Rasmussen, U. & Friis, J. The variable intrafamiliar expressivity in Pendred's syndrome. Clin. Otolaryngol. 14, 395-399 (1989).
8. Mondini, C. Anatomia surdi nati sectio: De Boroniensi scientarium et artium instituto atque acedemia commnetarii. Bononiae 7, 419-431 (1791).
9. Johnsen, T., Jorgensen, M.B. & Johnsen, S. Mondini cochlea in Pendred's syndrome; a histological study. Acta Oto-Laryngol. 102, 239-247 (1986).
10. Johnsen, T., Larsen, C., Friis, J. & Hougaard-Jensen, F. Pendred's syndrome: acoustic, vestibular and radiological findings in 17 unrelated patients. J. Laryngol. Otol. 101, 1187-1192 (1987).
11. Sheffield, V.C. et al. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet. 12, 424-426 (1996).
12. Trotter, W.R. The association of deafness with thyroid dysfunction. Br. Med. Bull. 16, 92-98 (1960).
13. Bradley, D.J., Towle, H.C. & Young, W.S., 3rd. Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo. Proc. Natl. Acad. Sci. USA 91, 439-443 (1994).
14. Van Middlesworth, L. & Norris, C.H. Audiogenic seizures and cochlear damage in rats after perinatal antithyroid treatment. Endocrinology 106, 1686-1690 (1980).