#1

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. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998;20:143-148.

#2

Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. 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;7:2021-2028.

#3

Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T. 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.

#4

Furlong RA, Ho LW, Rubinsztein JS, Michael A, Walsh C, Paykel ES, Rubinsztein DC. A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. Neurosci Lett 1999;277:123-126.

#5

Evans KL, Lawson D, Meitinger T, Blackwood DH, Porteous DJ. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Am J Med Genet 2000;96:158-160.

#6

Middle F, Jones I, McCandless F, Barrett T, Khanim F, Owen MJ, Lendon C, Craddock N. Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene. Am J Med Genet 2000;96:154-157.

#7

Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord 2000;58:11-17.

#8

Awata T, Inoue K, Kurihara S, Ohkubo T, Inoue I, Abe T, Takino H, Kanazawa Y, Katayama S. 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.

#9

Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-367.

#10

Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini R, Santorelli FM. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 2001;17:348-349.

#11

Torres R, Leroy E, Hu X, Katrivanou A, Gourzis P, Papachatzopoulou A, Athanassiadou A, Beratis S, Collier D, Polymeropoulos MH. Mutation screening of the Wolfram syndrome gene in psychiatric patients. Mol Psychiatry 2001;6:39-43.

#12

Gomez-Zaera M, Strom TM, Rodriguez B, Estivill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 2001;72:72-81.

#13

Bespalova IN, Van Camp G, J H Bom S, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. 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.

#14

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King MC. 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.

#15

Crawford J, Zielinski MA, Fisher LJ, Sutherland GR, Goldney RD. Is there a relationship between Wolfram syndrome carrier status and suicide? Am J Med Genet 2002;114:343-346.

#16

Minton JA, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes 2002;51:1287-1290.

#17

Cryns K, Pfister M, Pennings RJE, Bom SJH, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CWRJ3, Smith RJH, Van CampG. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002;110:389-394.

#18

Sam W, Qin H, Crawford B, Yue D, Yu S. Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. Clin Genet 2001;59:136-138.

#19

Kadayifci A, Kepekci Y, Coskun Y, Huang Y. Wolfram syndrome in a family with variable expression. Acta Medica (Hradec Kralove) 2001;44:115-118.

#20

Eller P, Foger B, Gander R, Sauper T, Lechleitner M, Finkenstedt G, Patsch JR. Wolfram syndrome: a clinical and molecular genetic analysis. J Med Genet 2001;38:E3.

#21

Domenech E, Gomez-Zaera M, Nunes V. WFS1 mutations in Spanish patients with diabetes mellitus and deafness. Eur J Hum Genet 2002;10:421-426.

#22

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 2002;47:395-399.

#23

Liu YH, Ke XM, Xiao SF. Heterogenous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2005;10:764-8.

#24

Kato T, Iwamoto K, Washizuka S, Mori K, Tajima O, Akiyama T, Nanko S, Kunugi H, Kato N. No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans. Neurosci Lett 2003;338:21-24.

#25

Martorell L, Zaera MG, Valero J, Serrano D, Figuera L, Joven J, Labad A, Vilella E, Nunes V. The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. Psychiatr Genet 2003;13:29-32.

#26

Kunz J, Marquez-Klaka B, Uebe S, Volz-Peters A, Berger R, Rausch P. Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment. Mutat Res 2003;525:121-124.

#27

van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. Molecular characterization of WFS1 in patients with Wolfram syndrome. J Mol Diagn 2003 May;5(2):88-9.

#28

Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Carmelo Salpietro D, Dallapiccola B. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 2003;21:622-629.

#29

Sivakumaran TA, Lesperance MM. Unpublished data.

#30

Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G. Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet 2003;119B:108-113.

#31

Hofmann S, Philbrook, Gerbitz K, Bauer MF. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003-2112.

#32

Wuyts et al. Personal communication.

#33

Young TL. Personal communication.

#34

Noguchi Y, Yashima T, Hatanaka A, Uzawa M, Yasunami M, Kimura A, Kitamura K. A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Acta Otolaryngol. 2005 Nov; 11:1189-94.

#35

Li et al. Unpublished data.

#36

Pennings RJE, Huygen PLM, van den Ouweland, Cryns K, Dikkeschei LD, Camp G, Cremers CWRJ. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivation WFS1 mutations. Audiol Neurootol, 2004;9:51-62.

#37

Domènech E, Gómez-Zaera M, Nunes V. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. Clin Genet 2004;65:463-469.

#38

Smith CJA, Crock PA, King BR, Meldrum CJ, Scott RJ. Phenotype-genotype correlations in a series of Wolfram syndrome families. Diabetes Care 2004;27:2003-200.

#39

Kawamoto T, Horikawa Y, Tanaka T, Kabe N, Takeda J, Mikuni M. Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder. Mol Genet Metab 2004;82:238-245.

#40

Giuliano F, Bannwarth S, Mannot S, Cano A, Chabrol B, Vialettes B, Delobel B et al. Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat 2005; Mutation Brief #77.

#41

Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet. 2005 Dec;12:1275-84.

#42

Gurtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Daniels R, Shelton C, Lalwani AK. Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. J Mol Med. 2005 May 24; Epub ahead of print.

#43

Lombardo F, Chiurazzi P, Hortnagel K, Arrigo T, Valenzise M, Meitinger T, Messina MF, Salzano G, Barberi I, De Luca F. Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. J Pediatr Endocrinol Metab. 2005;12:1391-7.

#44

Nakamura A, Shimizu C, Nagai S, Taniguchi S, Umetsu M, Atsumi T, Wada N, Yoshioka N, Ono Y, Tanizawa Y, Koike T. A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies. Diabetes Res Clin Pract. 2006 Jan 24; Epub ahead of print.

#45

Inukai K, Awata T, Inoue K, Kurihara S, Nakashima Y, Watanabe M, Sawa T, Takata N, Katayama S. Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Diabetes Res Clin Pract. 2005;69(2):136-41.

#46

Fang QC, Jia WP, Zhang R, Li Q, Hu C, Shao XY, Chai HQ, Lu HJ, Xiang KS. A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome. Zhonghua Yi Xue Za Zhi. 2005;85(35):2468-71.

#47

Smith et al. Unpublished data..

#48

Tranebjaerg, L., Hansen, L., Bille, M., Eiberg, H., Fagerheim, T., Munk-Nielsen, L., Sanggaard, K., Thyssen, F. and Parving, A.: Low frequency hearing impairment due to GJB2 and WFS1 mutations shows unrecognized genetic heterogeneity, Molecular Biology of Hearing & Deafness, Bethesda, MD, 2004.

#49

Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L. 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 May;43(5):435-40.

#50

Aluclu MU, Bahceci M, Tuzcu A, Arikan S, Gokalp D. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour. Neuro Endocrinol Lett. 2006 Dec;27(6):691-4.

#51

Fukuoka H, Kanda Y, Ohta S, Usami S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet. 2007;52(6):510-5.

#52

Tsai HT, Wang YP, Chung SF, Lin HC, Ho GM, Shu MT. A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. BMC Med Genet. 2007 May 22;8:26.

#53

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V, Vialettes B; French Group of Wolfram Syndrome The group of Wolfram syndrome comprised J.P. Azulay, H. Bihan, J.F. Blickle, D. Bonneau, P. Bougneres, J.P. Brassart, A. Cano, D. Chabas, L. Chaillous, P. Chanson, R. Coutant, B. Delobel, H. Dollfus, L. Dufaitre, C. Francannet, K. Huber, H. Journel, M. de Kerdanet, A. Kitzis, P. Lecomte, A. Linglart, S. Matthis, V. Mesnage, B. Mignot, K. N'Guyen, S. Odent, V. Paquis-Flucklinger, D. Raccah, T. Rouaud, J.L. Sadoul, P. Sarda, S. Sigaudy, G. Simonin, P. Vague, R. V. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A. 2007 Jul 15;143(14):1605-12.

#54

Flipsen-Ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet. 2007 Jul 18.

#55

Tsygankova P, et al. Unpublished data. Research Centre for Medical Genetics, Moscow, Russia.