Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

Journal of Medical Genetics

Volumn 36, Issue 6, 1999, Pages 475-477

  Coucke, P J ^a   Van Hauwe, P ^a   Everett, L A ^b   Demirhan, O ^f   Kabakkaya, Y ^g   Dietrich, N L ^b   Smith, R J H ^e   Coyle, E ^c   Reardon, W ^d   Trembath, R ^c   Willems, P J ^a   Green, E D ^b   Van Camp, G ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^f CUKUROVA UNIVERSITY   (Turkey)

^g Orta Dogu Private Hospital   (Turkey)

Author keywords

PDS gene; Pendred syndrome

Indexed keywords

AMINO ACID;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONSANGUINITY; GENE ISOLATION; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; INBREEDING; INTRON; MISSENSE MUTATION; NETHERLANDS; PENDRED SYNDROME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; SPLICEOSOME; TURKEY (REPUBLIC);

BASE SEQUENCE; CARRIER PROTEINS; CONSANGUINITY; DEAFNESS; DNA; FEMALE; GOITER; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; RNA SPLICING; SYNDROME; TURKEY;

EID: 0032994602     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Pendred V Deaf mutism and goitre. Lancet 1896;ii:532.
2. Ilium P, Kiaer HW, Hansen JH, Sondergaard G. Fifteen cases of Pendred's syndrome, congenital deafness with sporadic goiter. Arch Qtolaryngol 1972;96:297-304.
3. Cremers CWRJ, Bolder CH, Adimiraal RJC, et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg 1998;124:501-5.
4. Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998;53:268-73.
5. Coyle B, Coffey R, Armour JA, et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421-3.
6. Coucke P, Van Camp G, Demirhan O, et al. The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. Genomics 1997;40:48-54.
7. Gausden E, Coyle B, Armour JA, et al. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. J Med Genet 1997;34:126-9.
8. Everett LA, Glazer B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-22.
9. Hoglund P, Haila S, Socha J, et al. Mutations in the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 1996;14:316-19.
10. Hastbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-87.
11. Coyle B, Reardon W, Herbrick J, et al. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). Hum Mol Genet 1998;7:1105-7.
12. Van Hauwe P, Everett LA, Coucke P, et al. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998;7:1099-104.
13. Johnsen T, Sorensen MS, Feldt-Rasmussen U, Friis J. The variable intrafamilial expressivity in Pendred's syndrome. Clin Otolaryngol 1989;14:395-9.
14. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-17.
15. Kabakkaya Y, Bakan E, Yigitoglu MR, Gokce G, Dogan M. Pendred's syndrome. Ann Otol Rhinol Laryngol 1993;102:285-8.
16. Krawczak M, Reiss J, Cooper DM. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90:41-54.
17. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 1993;53:330-8.
18. Heinisch U, Zlotogora J, Kafert S, Gieselmann V. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 1995;56:51-7.
19. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A, Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997;6:2163-72.
20. Zlotogora J, Gieselmann V, Bach G. Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet 1996;58:241-3.