Homozygosity mapping identifies additional locus for Wolfram syndrome on chromosome 4q

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1229-1236

  El Shanti, Hatem ^a,b   Lidral, Andrew C ^c   Jarrah, Nadim ^b   Druhan, Lawrence ^c   Ajlouni, Kamel ^b  

^a JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^b National Center for Diabetes Endocrinology and Genetics Jordan   (Jordan)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 4P; CHROMOSOME 4Q; CLINICAL ARTICLE; DIABETES INSIPIDUS; DIABETES MELLITUS; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MALE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; WOLFRAM SYNDROME;

EID: 0033942396     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302858     Document Type: Article

References (42)

1. Antonarakis SE (1994) Genome linkage scanning: systematic or intelligent? Nat Genet 8:211-212
2. Barren TG, Bundey SE (1997) Wolfram (DIDMOAD) syndrome. J Med Genet 34:838-841
3. Barret TG, Bundey SE, Fielder AR, Good PA (1997) Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 11: 882-888
4. Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, et al (1996a) Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 58:963-970
5. Barrientos A, Volpini V, Casademont J, Genis D, Manzanares J-M, Ferrer I, Corral J, et al (1996b) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 97:1570-1576
6. Blackwood DH, He L, Morris SW, McLean A, Whitton C, Thomson M, Walker MT, et al (1996) A locus for bipolar affective disorder on chromosome 4p. Nat Genet 12:427-430
7. Blasi C, Pierelli F, Rispoli E, Saponara M, Vingolo E, Andreani D (1986) Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution. Diabetes Care 9:521-528
8. Bretz GW, Baghdassarian A, Graber JD, Zacherle BJ, Norum RA, Blizzard RM (1970) Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings: studies and review of the literature. Am J Med 48:398-403
9. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869
10. Buell G, Schulz MF, Arkinstall SJ, Maury K, Missotten M, Adami N, Talabot F, et al (1992) Molecular characterisation, expression and localisation of human neurokinin-3 receptor. FEBS Lett 299:90-95
11. Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey S (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 59:855-863
12. Cremers CW, Wijdeveld PG, Pinckers AJ (1977) Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome): a review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand Suppl 264:1-16
13. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, et al (1998) A physical map of 30,000 human genes. Science 282:744-746
14. Detera-Wadleigh SD, Badner JA, Yoshikawa T, Sanders AR, Goldin LR, Turner G, Rollins DY, et al (1997) Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 4, 7, 9, 18, 19, 20, and 21q. Am J Med Genet 74:254-262
15. Duggirala R, Blangero J, Almasy L, Dyer TD, Williams KL, Leach RJ, O'Connell P, et al (1999) Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 64:1127-1140
16. Ginns EI, St Jean P, Philibert RA, Galdzicka M, Damschroder-Williams P, Thiel B, Long RT, et al (1998) A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish. Proc Natl Acad Sci USA 95: 15531-15536
17. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, et al (1999) Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 65:1279-1290
18. Hashimoto L, Habita C, Beressi JP, Delepine M, Besse C, Cambon-Thomsen A, Deschamps I, et al (1994) Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371:161-164
19. Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD (1997) Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Mol Cell Biochem 174:209-213
20. Inglehearn CF (1997) Intelligent linkage analysis using gene density estimates. Nat Genet 16:15
21. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, et al (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143-148
22. Kennedy JL, Basile VS, Macciardi FM (1999) Chromosome 4 workshop summary: Sixth World Congress on Psychiatric Genetics, Bonn, Germany, October 6-10, 1998. Am J Med Genet 88:224-228
23. Kinsley BT, Swift M, Dumont RH, Swift RG (1995) Morbidity and mortality in the Wolfram syndrome. Diabetes Care 18: 1566-1570
24. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
25. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
26. Levinson DF, Mahtani MM, Nancarrow DJ, Brown DM, Kruglyak L, Kirby A, Hayward NK, et al (1998) Genome scan of schizophrenia. Am J Psychiatr 155:741-750
27. Lidral AC, Murray JC, Buetow KH, Basart AB, Schearer H, Shiang R, Naval A, et al (1997). Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 34:1-6
28. Mitchell BD, Kammerer CM, O'Connell P, Harrison CR, Manire M, Shipman P, Moyer MP, et al (1995) Evidence for linkage of postchallenge insulin levels with intestinal fatty acid-binding protein (FABP2) in Mexican-Americans. Diabetes 44:1046-1053
29. Murray JC, Buetow KH, Weber JL Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, et al (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
30. Ohata T, Koizumi A, Kayo T, Shoji Y, Watanabe A, Monoh K, Higashi K, et al (1998) Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum Genet 103:470-474
31. Page M, Asmal AC, Edwards CRW (1976) Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Quart J Med 45: 505-520
32. Polymeropoulos MH, Swift RG, Swift M (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 8:95-97
33. Prochazka M, Lillioja S, Tait JF, Knowler WC, Mott DM, Spraul M, Bennett PH, et al (1993) Linkage of chromosomal markers on 4q with a putative gene determining maximal insulin action in Pima Indians. Diabetes 42:514-519
34. Rose FC, Fraser GR, Friedmann AI, Kohner EM (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Quart J Med 35:385-405
35. Rotig A, Cormier V, Chatelain P, Francois R, Saudubray J-M, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91:1095-1098
36. Salih MAM, Tuvemo T (1991) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome): a clinical study in two Sudanese families. Acta Paediatr Scand 80:567-572
37. Sheffield VC, Nishimura DY, Stone EM (1995) Novel approaches to linkage mapping. Curr Opin Genet Dev 5: 335-341
38. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, et al (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7: 2021-2028
39. Swift RG, Polymeropoulos MH, Torres R, Swift M (1998) Predisposition of Wolfram syndrome heterozygotes to sychiatric illness. Mol Psychiatry 3:86-91
40. Swift RG, Sadler DB, Swift M (1990) Psychiatric findings in Wolfram syndrome homozygotes. Lancet 336:667-669
41. Wolfram DJ, Wagener HP (1938) Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 13:715-718
42. Yuan B, Valske D, Weber JL, Beck J, Sheffield VC (1997) Improved set for short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet 60:459-460