The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family

Endocrine

Volumn 35, Issue 2, 2009, Pages 151-157

  Hong, Jie ^a   Zhang, Yu Wen ^a   Zhang, Hui Jie ^a   Jia, Hui Ying ^a   Zheng, Yu ^a   Ding, Xiao Yi ^a   Zhou, Dan Yang ^b   Chen, Hui Ping ^b   Jiang, Xiao Hua ^a   Cui, Bin ^a   Li, Xiao Ying ^a   Ning, Guang ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b HANGZHOU RED CROSS HOSPITAL   (China)

Author keywords

Diabetes insipidus; Diabetes mellitus; Mutation; WFS1 gene; Wolfram syndrome

Indexed keywords

ARTICLE; EXON; GENE DELETION; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WOLFRAM SYNDROME;

EID: 67349145967     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-009-9145-7     Document Type: Article

References (33)

1. DJ Wolfram HP Wagener 1938 Diabetes mellitus and simple optic atrophy among siblings: report of four cases Mayo Clin. Proc. 9 715 718
2. NJ Scolding HF Kellar-Wood C Shaw 1996 Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy Ann. Neurol. 39 352 360 (Pubitemid 26100759)
3. RG Swift DB Sadler M Swift 1990 Psychiatric findings in Wolfram syndrome homozygotes Lancet 336 667 669 (Pubitemid 20288873)
4. E Simsek T Simsek S Tekgül 2003 Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of literature Acta Pediatr. 92 55 61 (Pubitemid 36255932)
5. TG Barrett SE Bundey AF Macleod 1995 Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 345 1458 1463
6. BT Kinsley M Swift RH Dumont 1995 Morbidity and mortality in the Wolfram syndrome Diabetes Care 18 1566 1570
7. H Inoue Y Tanizawa J Wasson 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 143 148 (Pubitemid 28455446)
8. TM Strom K Hortnagel S Hofmann 1998 Diabetes insipidus, diabetes mellitus, optic atrophy, deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein Hum. Mol. Genet. 7 2021 2028 (Pubitemid 28546409)
9. C Hardy F Khanim R Torres 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 (Pubitemid 30460378)
10. A Rotig V Cormier P Chatelain 1993 Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome) J. Inherit. Metab. Dis. 16 527 530 (Pubitemid 23206844)
11. S Bundey K Poulton H Whitwell 1992 Mitochondrial abnormalities in the DIDMOAD syndrome J. Inherit. Metab. Dis. 15 315 319
12. A Barrientos J Casademont A Saiz 1996 Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion Am. J. Hum. Genet. 58 963 970 (Pubitemid 26115167)
13. MJ Jackson VLA Bindo K Weber 1994 Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness Diabetes Care 17 728 733 (Pubitemid 24198042)
14. V Seyrantepe H Topaloglu E Simsek 1996 Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome Lancet 347 695 696 (Pubitemid 26076158)
15. S Hofmann R Bezold M Jaksch 1997 Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes Genomics 39 8 18 (Pubitemid 27057267)
16. TG Barrett M Scott-Brown A Seller 2000 The mitochondrial genome in Wolfram syndrome J. Med. Genet. 37 463 466 (Pubitemid 30386743)
17. H El-Shanti AC Lidral N Jarrah 2000 Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q Am. J. Hum. Genet. 66 1229 1236 (Pubitemid 30468780)
18. A Barrientos V Volpini J Casademont 1996 Anuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome J. Clin. Invest. 97 1570 1576 (Pubitemid 26105466)
19. RG Swift DO Pekins CL Chase 1991 Psychiatric disorders in 36 families with Wolfram syndrome Am. J. Psychiatry 148 775 779
20. P Baz S Azar R Medlej 1999 Role of early funduscopy for diagnosis of wolfram syndrome in type I diabetic patients Diabetes Care 22 1376 1377 (Pubitemid 29350256)
21. C Leiva-Santana A Carro-Martinez A Monge-Argiles 1993 Neurologic manifestations in Wolfram syndrome Rev. Neurol. 149 26 29
22. D Genis A Davalos A Molins 1997 Wolfram syndrome: a neuropathological study Acta Neuropathol. 93 426 429 (Pubitemid 27153710)
23. HB Grosse Aldenhovel U Gallenkamp CA Sulemana 1991 Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)- neurological findings and prognostic implications Neuropediatrics 22 103 106
24. AT Soliman B Bappal A Darwish 1995 Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study Arch. Dis. Child. 73 251 253
25. K Takeda H Inoue Y Tanizawa 2001 WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain Hum. Mol. Genet. 10 477 484 (Pubitemid 32181670)
26. M Al-Sheyyab N Jarrah E Younis 2001 Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype-genotype correlation Eur. J. Pediatr. 160 243 246 (Pubitemid 32250007)
27. Y Tanizawa H Inoue Y Oka 2000 Positional cloning of the gene (WFS1) for Wolfram syndrome Rinsho Byori 48 941 947
28. MH Polymeropoulos RG Swift M Swift 1994 Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 Nat. Genet. 8 95 97 (Pubitemid 24274067)
29. DA Collier TG Barrett D Curtis 1996 Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity Am. J. Hum. Genet. 59 855 863 (Pubitemid 26328082)
30. A Tessa I Carbone MC Matteoli 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome Hum. Mutat. 17 348 349
31. M Gomez-Zaera TM Strom B Rodriguez 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees Mol. Genet. Metab. 72 72 81 (Pubitemid 34169354)
32. S Tekgul O Oge E Simsek 1999 Urological manifestation of the Wolfram syndrome: observations in 14 patients J. Urol. 161 2 616 617
33. FJ Anglada Curado M Leva Vallejo 2000 Wolfram syndrome: urologic implications Actas Urol. Esp. 24 504 508