Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India

Diabetic Medicine

Volumn 28, Issue 11, 2011, Pages 1337-1342

  Ganie, M A ^a   Laway, B A ^a   Nisar, S ^b   Wani, M M ^a   Khurana, M L ^c   Ahmad, F ^a   Ahmed, S ^a   Gupta, P ^c   Ali, I ^a   Shabir, I ^c   Shadan, A ^a   Ahmed, A ^a   Tufail, S ^a  

^a SHER I KASHMIR INSTITUTE OF MEDICAL SCIENCES   (India)

^b Government Medical College   (India)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Diabetes insipidus; Diabetes mellitus; India; Optic atrophy; Wolfram syndrome

Indexed keywords

ADULT; ARTICLE; CHOLANGITIS; CLINICAL ARTICLE; COMMON BILE DUCT STONE; CONSANGUINITY; CONTROLLED STUDY; CYANOTIC HEART DISEASE; DEGENERATIVE DISEASE; DIABETES INSIPIDUS; DISEASE COURSE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HUMAN; INDIA; JUVENILE DIABETES MELLITUS; MALABSORPTION; MALE; MYOCLONUS; NEPHROGENIC DIABETES INSIPIDUS; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; SHORT STATURE; TERTIARY HEALTH CARE; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHOLANGITIS; CHOLEDOCHOLITHIASIS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; HEARING LOSS, SENSORINEURAL; HUMANS; INDIA; MAGNETIC RESONANCE IMAGING; MALABSORPTION SYNDROMES; MALE; MEMBRANE PROTEINS; MUTATION; MYOCLONUS; OPTIC ATROPHY; PEDIGREE; WOLFRAM SYNDROME; YOUNG ADULT;

EID: 80054693540     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2011.03377.x     Document Type: Article

References (21)

1. Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938; 13: 715-718.
2. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995; 346: 1458-1463.
3. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998; 20: 143-148.
4. El-Shanti H, Lidral A C, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000; 66: 1229-1236.
5. Ganie M A, Bhat D. Current developments in Wolfram syndrome. J Pediatr Endocrinol Metab 2009; 22: 3-10.
6. Kinsley BT, Swift M, Dumont RH, Swift RJ. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995; 18: 1566-1570.
7. Cremers CW, Wijdeveld PG, Pinckers AJ. 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 three new patients. Acta Paediatr Scand 1977; 264: S3-S16.
8. Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 2004; 89: 1656-1661.
9. Bretz GW, Baghdassarian A, Graber JD, Zacherle BJ, Norum RA, Blizzard RM. Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings: studies and review of literature. Am J Med 1970; 48: 398-403.
10. Gunn T, Bortolussi R, Little JM, Andermann F, Fraser FC, Belmonte MM. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus-a syndrome. J Pediatr 1976; 89: 565-570.
11. Manaviat M, Rashidi M, Mohammadi SM. Wolfram's syndrome presenting with optic atrophy and diabetes mellitus: two case reports. Cases J 2009; 2: 9355.
12. Seshiah V, Sanjeevi CB, Venkataraman S, Rao KV. Wolfram syndrome with limited joint mobility. J Assoc Physicians India 1987; 35: 528-529.
13. Gupta KL, Ghosh AK, Jha V, Gupta A, Sakhuja V. Wolfram (DIDMOAD) syndrome with diabetic retinopathy. J Assoc Physicians India 1994; 42: 831-832.
14. Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L et al. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 2005; 13: 1275-1284.
15. Tekgül S, Oge O, Simşek E, Yordam N, Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients. J Urol 1999; 161: 616-617.
16. Hadidy AM, Jarrah NS, Al-Till MI, El-Shanti HE, Ajlouni KM. Radiological findings in Wolfram syndrome. Saudi Med J 2004; 25: 638-641.
17. Plantinga RF, Pennings RJ, Huygen PL, Bruno R, Eller P, Barrett TG et al. Hearing impairment in genotyped Wolfram syndrome patients. Ann Otol Rhinol Laryngol 2008; 117: 494-500.
18. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J 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: 1279-1290.
19. Annunzio GD, Minuto N, Amato ED, Toni TD, Lombardo F, Pasquali L et al. Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) clinical and genetic study. Diabetes Care 2008; 31: 1743-1745.
20. Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA et al. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 1996; 59: 855-863.
21. Hilson JB, Merchant SN, Adams JC, Joseph J. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol 2009; 118: 415-428.