Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 14, 2007, Pages 1605-1612

  Cano, A ^a,b,h   Rouzier, C ^b   Monnot, S ^b   Chabrol, B ^a   Conrath, J ^a   Lecomte, P ^c,h   Delobel, B ^d,h   Boileau, P ^e   Valero, R ^a,h   Procaccio, V ^f   Paquis Flucklinger, V ^b,g,h   Vialettes, B ^a,h   Azulay, J P ^h   Bihan, H ^h   Blickle, J F ^h   Bonneau, D ^h   Bougneres, P ^h   Brassart, J P ^h   Chabas, D ^h   Chaillous, L ^h   Chanson, P ^h   Coutant, R ^h   Dollfus, H ^h   Dufaitre L ^h   Francannet, C ^h   Huber, K ^h   Journel, H ^h   De Kerdanet, M ^h   Kitzis, A ^h   Linglart, A ^h   Matthis, S ^h   Mesnage, V ^h   Mignot, B ^h   N'Guyen, K ^h   Odent, S ^h   Raccah, D ^h   Rouaud, T ^h   Sadoul, J L ^h   Sarda, P ^h   Sigaudy, S ^h   Simonin, G ^h   Vague, P ^h   more..

^a TIMONE HOSPITAL   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c CHU BRETONNEAU   (France)

^d HÔPITAL SAINT ANTOINE   (France)

^e HÔPITAL SAINT VINCENT DE PAUL   (France)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITÉ CÔTE D'AZUR   (France)

^h NONE

Author keywords

DIDMOAD; Genotype phenotype correlation; WFS1; Wolfram syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; DIABETES MELLITUS; FEMALE; FRANCE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; META ANALYSIS; MISSENSE MUTATION; ONSET AGE; OPTIC NERVE ATROPHY; PREVALENCE; PRIORITY JOURNAL; SYSTEMATIC REVIEW; WFS1 GENE; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; META-ANALYSIS; MUTATION; PEDIGREE; PHENOTYPE; WOLFRAM SYNDROME;

EID: 34447293761     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31809     Document Type: Article

References (31)

1. Awata T, Inoue K, Kurihara S, Ohkubo T, Inoue I, Abe T, Takino H, Kanazawa Y, Katayama S. 2000. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: Possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. Biochem Biophys Res Commun 268:612-616.
2. Barrett TG, Bundey SE, Macleod AF. 1995. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346:1458-1463.
3. Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro DC, Dallapiccola B. 2003. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 21:622-629.
4. Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. 2003. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 22:275-287.
5. den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: Why bother? Hum Mutat 22:181-182.
6. Domenech E, Gomez-Zaera M, Nunes V. 2002. WFS1 mutations in Spanish patients with diabetes mellitus and deafness. Eur J Hum Genet 10:421-426.
7. Fonseca SG, Fukuma M, Lipson KL, Nguyen LX, Allen JR, Oka Y, Urano F. 2005. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem 280:39609-39615.
8. Furlong RA, Ho LW, Rubinsztein JS, Michael A, Walsh C, Paykel ES, Rubinsztein DC. 1999. A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. Neurosci Lett 277:123-126.
9. Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V. French Group of WS. 2005. Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat 25:99-100.
10. Gomez-Zaera M, Strom TM, Rodriguez B, Estivill X, Meitinger T, Nunes V. 2001. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 72:72-81.
11. Gurtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Daniels R, Shelton C, Lalwani AK. 2005. Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. J Mol Med 83:553-560.
12. Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. 2005. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 13:1275-1284.
13. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T. 1999. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in W FS1. Am J Hum Genet 65:1279-1290.
14. Hui H, Dotta F, Di Mario U, Perfetti R. 2004. Role of caspases in the regulation of apoptotic pancreatic islet beta-cells death. J Cell Physiol 200:177-200.
15. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. 1998. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143-148.
16. Koido K, Koks S, Nikopensius T, Maron E, Altmae S, Heinaste E, Vabrit K, Tammekivi V, Hallast P, Kurg A, Shlik J, Vasar V, Metspalu A, Vasar E. 2005. Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders. Int J Neuropsychopharmacol 8:235-244.
17. McBain SC, Morgan NG. 2003. Functional effects of expression of wolframin-antisense transcripts in BRIN-BD11 beta-cells. Biochem Biophys Res Commun 307:684-688.
18. Minton JA, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM. 2002. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes 51:1287-1290.
19. Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M. 2003. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem 278:52755-52762.
20. Philbrook C, Fritz E, Weiher H. 2005. Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp Gerontol 40:671-678.
21. Riggs AC, Bernal-Mizrachi E, Ohsugi M, Wasson J, Fatrai S, Welling C, Murray J, Schmidt RE, Herrera PL, Permutt MA. 2005. Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Diabetologia 48:2313-2321.
22. Robertson RP, Harmon J, Tran PO, Poitout V. 2004. Beta-cell glucose toxicity, lipotoxicity, and chronic oxidative stress in type 2 diabetes. Diabetes 53:S119-124.
23. Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G. 2003. Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet Part B Neuropsychiatr Genet 119B:108-113.
24. Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ. 2004. Phenotype-genotype congelations in a series of wolfram syndrome families. Diabetes Care 27:2003-2009.
25. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. 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.
26. Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M. 1991. Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatry 148:775-779-
27. Swift RG, Polymeropoulos MH, Torres R, Swift M. 1998. Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol Psychiatry 3:86-91.
28. Swift M, Swift RG. 2005. Wolframin mutations and hospitalization for psychiatric illness. Mol Psychiatry 10:799-803.
29. Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini R, Santorelli FM. 2001. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 17:348-349.
30. Toth T, Pfister M, Zenner HP, Sziklai I. 2006. Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. Int J Pediatr Otorhinolaryngol 70:201-206.
31. Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC. 2001. Nonsyndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene W FS1. Hum Mol Genet 10:2509-2514.