Autosomal dominant diabetes arising from a wolfram syndrome 1 mutation

Diabetes

Volumn 62, Issue 11, 2013, Pages 3943-3950

  Bonnycastle, Lori L ^a   Chines, Peter S ^a   Hara, Takashi ^b   Huyghe, Jeroen R ^c   Swift, Amy J ^a   Heikinheimo, Pirkko ^d   Mahadevan, Jana ^b   Peltonen, Sirkku ^d   Huopio, Hanna ^e   Nuutila, Pirjo ^d,f   Narisu, Narisu ^a   Goldfeder, Rachel L ^a   Stitzel, Michael L ^a   Lu, Simin ^b   Boehnke, Michael ^c   Urano, Fumihiko ^b   Collins, Francis S ^a   Laakso, Markku ^e  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF TURKU   (Finland)

^e KUOPIO UNIVERSITY HOSPITAL   (Finland)

^f TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DIABETES; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; ENDOPLASMIC RETICULUM STRESS; EXOME; EXON; FOLLOW UP; GENE; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MIDDLE AGED; PANCREAS ISLET BETA CELL; PHENOTYPE; PRIORITY JOURNAL; WOLFRAM SYNDROME 1 GENE; YOUNG ADULT; ADOLESCENT; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETICS; MALE; PEDIGREE; WOLFRAM SYNDROME;

MEMBRANE PROTEIN; WOLFRAMIN PROTEIN;

ADOLESCENT; ADULT; DIABETES MELLITUS; ENDOPLASMIC RETICULUM STRESS; EXOME; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; WOLFRAM SYNDROME;

EID: 84891679935     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db13-0571     Document Type: Article

References (34)

1. Molven A, Njølstad PR. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev Mol Diagn 2011;11:313-320
2. Steck AK, Winter WE. Review on monogenic diabetes. Curr Opin Endocrinol Diabetes Obes 2011;18:252-258
3. Ashcroft FM, Rorsman P. Diabetes mellitus and the b cell: the last ten years. Cell 2012;148:1160-1171
4. Vaxillaire M, Bonnefond A, Froguel P. The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab 2012;26:171-187
5. Teer JK, Bonnycastle LL, Chines PS, et al.; NISC Comparative Sequencing Program. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 2010;20:1420-1431
6. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38: e164
7. Harrow J, Frankish A, Gonzalez JM, et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res 2012;22:1760- 1774
8. 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, Depristo MA, Durbin RM, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature. 2012;491:56-65
9. Li H, Durbin R. Fast and accurate short read alignment with Burrows- Wheeler transform. Bioinformatics 2009;25:1754-1760
10. Ernst J, Kheradpour P, Mikkelsen TS, et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 2011;473:43- 49
11. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575
12. Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005;21: 3445-3447
13. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002;30:97- 101
14. Fonseca SG, Ishigaki S, Oslowski CM, et al. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest 2010;120:744-755
15. Fonseca SG, Fukuma M, Lipson KL, et al. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem 2005;280:39609- 39615
16. Fonseca SG, Urano F, Burcin M, Gromada J. Stress hypERactivation in the β-cell. Islets 2010;2:1-9
17. Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet 2011;79:103-117
18. Hansen L, Eiberg H, Barrett T, 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
19. Fonseca SG, Urano F, Weir GC, Gromada J, Burcin M. Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. Nat Cell Biol 2012;14:1105-1112
20. Awata T, Inoue K, Kurihara S, et al. 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 2000;268:612- 616
21. Zalloua PA, Azar ST, Delépine M, et al. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Hum Mol Genet 2008;17:4012-4021
22. Sandhu MS, Weedon MN, Fawcett KA, et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007;39:951-953
23. Franks PW, Rolandsson O, Debenham SL, et al. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia 2008;51:458-463
24. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346: 1458-1463
25. Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr 2012;24:512-517
26. Young TL, Ives E, Lynch E, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001;10:2509-2514
27. Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501-2508
28. Gürtler N, Kim Y, Mhatre A, et al. Two families with nonsyndromic lowfrequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. J Mol Med (Berl) 2005;83:553-560
29. Fukuoka H, Kanda Y, Ohta S, Usami S-I. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 2007;52:510-515
30. Hofmann S, Philbrook C, Gerbitz K-D, Bauer MF. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003- 2012
31. Johansson S, Irgens H, Chudasama KK, et al. Exome sequencing and genetic testing for MODY. PLoS ONE 2012;7:e38050
32. Eiberg H, Hansen L, Kjer B, et al. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006;43:435-440
33. Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Diabet Med 2008;25:657-661
34. Tranebjaerg L, Barrett T, Rendtorff ND. WFS1-related disorders. In GeneReviews. GeneReviews. Pagon RA, Ed. Seattle, WA, University of Washington, Seattle, p. 1-19