Wolfram syndrome: Phenotype and novel mutation in two Taiwanese siblings

Journal of the Formosan Medical Association

Volumn 102, Issue 11, 2003, Pages 808-811

  Shu, San Ging ^a,b   Tsai, Chi Ren ^a   Chi, Ching Shiang ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

DIDMOAD; Geneotype; Mutation; Phenotype; Wolfram syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DEGENERATIVE DISEASE; DIABETES INSIPIDUS; DIABETES MELLITUS; DISEASE CARRIER; DISEASE COURSE; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; OPTIC NERVE ATROPHY; PHENOTYPE; SIBLING; SYMPTOMATOLOGY; TAIWAN; URINARY TRACT DISEASE; WOLFRAM SYNDROME; CHROMOSOME 4; GENETICS; NEWBORN; PEPTIC ULCER; STOP CODON; THROMBOCYTE DISORDER;

BLOOD PLATELET DISORDERS; CHROMOSOMES, HUMAN, PAIR 4; CODON, NONSENSE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; PEPTIC ULCER; PHENOTYPE; SIBLINGS; WOLFRAM SYNDROME;

EID: 1342263762     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Wolfram DJ, Wagener HP: Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938;13:715-8.
2. Inoue H, Tanizawa Y, Wasson J, et al: A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998;20:143-8.
3. Strom TM, Hortnagel K, Hofmann S: 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 1998;7:2021-8.
4. Hardy C, Khanim F, Torres R, et al: Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 1999;65:1279-90.
5. Sam W, Qin H, Crawford B, et al: Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. Clin Genet 2001;59:136-8.
6. Kinsley BT, Swift M, Dumont RH, et al: Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995;18:1566-70.
7. Swift RG, Sadler DB, Swift M: Psychiatric findings in Wolfram syndrome homozygotes. Lancet 1990;336:667-9.
8. Swift RG, Perkins DO, Chase CL, et al: Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatry 1991;148:775-9.
9. El Shanti H, Lidral AC, Jarrach N, et al: Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229-36.
10. Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458-63.
11. Fraser FC, Gunn T: Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? J Med Genet 1977;14:190-3.
12. Lim MC, Thai AC: A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. Ann Acad Med Singapore 1990;19:548-55.
13. Tekgul S, Oge O, Simsek E, et al: Urological manifestations of the Wolfram syndrome: observation in 14 patients. J Urol 1999;161:616-7.
14. Higashi K: Otologic findings of DIDMOAD syndrome. Am J Otology 1991;12:57-60.
15. Martorell L, Zaera MG, Valero J, et al: The WFS1 (Wolfram syndrome) is not a major susceptibility gene for the development of psychiatric disorders. Psychiatr Genet 2003;13:29-32.
16. Gomez-Zaera M, Strom TM, Rodriguez B: Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 2001;72:72-81.
17. Khanim F, Kirk J, Latif F: WFS1/wolfram mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-67.