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11709538,11709537,21968327,27666717,12955714,18660851,30014265,26773575,31363008,35450504,12058630,23845777,12707373,21538838,17517145,28468959,16353398,11161832,12884741,11215108,33179441,12073007,9771706,25282462,17492394,34404380,18688868,25255707,28974383,21823543,12181639,31937257,21726277,16151413,17846994,9817917,12754709,15503287,14968315,21623591,37041640,12707187,33879153,19160074,19042979,10521293,29529044,12490066,27217304,10739754,14676474,32567228,22771918,25211237,24890733,32419160,16648378,12650912,25895475,28271591,19107147,27468121,16321270,20069065,21356526,15605410,16408729,24909696,34258273,26169481,18518985,28340560,16005363,34006618,21632151,18566338,28432734,29774890,23590985,17187023,31391115,9856492,25173644,23936151,25250959,29549887,11317350,28860598,15531309,25633957,18544103,33879837,22790102,34360843,25764693,16442662,17568405,20875904,28802351,30957632,35810424,36134655,27412528,23373429,14626834,28335035,12107816,31309279,11811080,16459341,35206658,17160206,11992483,35399956,21564155,35018440,32938580,32949681,26416264,29258540,32219690,35328914,20972738,23103830,31313226,29447883,11920861,31455392,19877185,12605098,22781099,23690975,24462758,11159937,12913071,29239282,23345450,16097006,33075784,15277431,34792487,31600780,34312071,31103816,36958120,25210753,23429432,36225977,16459465,12687499,29533536,20206331,36098976,35112031,24227685,11245985,17646750,13680526,18667942,20160352,36094066,25138102,33693650,32911884,32143290,31266054,34643356,10369879,33946243,34630320,30856043,22226368,34556497,36564540,36764396,12145746,19438934,30682115,27053292,23903355,29357349,25919374,33496845,21116635,31446693,22238590,31567480,12676893,20972658,26875006,36781206,30476627,34979615,27222289,10868227,36816038,11553051,34831417,10767548,20664696,11524702,32062759,27617222,33610659,22311385,17033969,11910556,21713316,32632005,10400989,9949200,11531971,21602428,25242383,18804074,12022040,15240907,33974254,10090882,33527330,36330437,21689626,36824811,33671976,15008830,17329413,35602877,9491819,30419932,9188673,14745080,36835101,9491807,12062767,17981648,9506947,11181571,28328138,24211385,25474651,32842192,25056293,18701883,21306635,12127154,33882198,26819810,24363064,27302843,31801140,19523951,10760554,30171196,12393799,31786483,10987647,34238775,17967520,16449806,11468689,34650143,31593348,31420094,10812037,28830375,21541222,19420365,24729539,28790396,34582248,18974863,16804542,32681043,20186779,28322503,15286153,33666833,23251483,36995380,19911014,37114731,8102726,35010780,25941349,11244483,34247367,33228777,11409409,27260575,35640035,15253338,9603736,36833385,33301229,11133365,19646679,33234333,20853184,11687802,31858762,31796109,25770132,36748654,32294086,12408079,25371195,23273769,26797701,33386993,32281099,32864536,16151340,34406847,33111345,20624953,18452040,32179840,34828323,32767731,11023810,34118384,32382995,29483894,22864630,9562514,35020051,8651280,36494063,36933359,9537904,16327655,12707947,36048850,12408065,34840683,16509533,11167014,21660509,31064337,36509837,10401008,1975860,17427029,35063306,34746052,453309,9445480,16685646,1623624,23813623,12145752,35089886,35252627,7609443,19449020,8912791,18035737,35256060,23650218,16385458,19190672,35325133,28815995,11916957,23826306,12702164,35791237,29453195,26437881,24781754,10097882,11159947,19180119,23340767,15266624,12080997,10862633,35325944,12403827,7850272,35054877,12408076,20447146,11487575,29521454,24694561,29263746,9529344,22174915,2221817,33063868,9409865,36104420,9467137,34365619,7839145,10868235,33603160,31935437,20943778,30740830,23652376,24588001,30888424,10483789,23543054,25900720,33996696,28332767,17236138,26586986,26197441,19478460,32337552,12618560,33926089,18953341,31403828,33794621,21998865,33791800,12002277,20447147,14647736,33763535,8735411,30979932,19248180,4058877,28322498,11260218,25480037,31850070,36527091,33869661,31506927,31336982,10868236,30155266,34304520,12296523,27236922,15633192,22737327,19363478,17603484,21739586,22072859,32723293,32911714,12580786,33643381,19215054,32824898,35240325,6662621,22770981,24339547,19253381,14735582,17167799,35060117,1952616,24086324,36687263,10868220,10868229,10868240,11601506,32864817,10868222,9452117,15106123,31921123,16632497,33122205,35983751,24913193,17041932,9113209,37121227,10972097,34133072,34338890,20649540,15916118,29398643,25883929,33614666,26005567,36760995,35718381,12663628,12205114,35869884,31893057,24083179,35366518,30385646,1952622,31192449,29497515,19054061,32700054,33231368,32912813,7583112,32776596,24556864,33736956,24421866,23552399,10334469,36571353,29861534,35535008,32819808,34135457,28475771,32042493,31119195,33956304,31970217,30286575,37076572,34690172[uid]

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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC. Young TL, et al. Hum Mol Genet. 2001 Oct 15;10(22):2509-14. doi: 10.1093/hmg/10.22.2509. Hum Mol Genet. 2001. PMID: 11709538

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Bespalova IN, et al. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

Yuca SA, Rendtorff ND, Boulahbel H, Lodahl M, Tranebjærg L, Cesur Y, Dogan M, Yilmaz C, Akgun C, Acikgoz M. Yuca SA, et al. Eur J Med Genet. 2012 Jan;55(1):37-42. doi: 10.1016/j.ejmg.2011.08.005. Epub 2011 Sep 23. Eur J Med Genet. 2012. PMID: 21968327

[Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

Shi SM, Han YH, Wang HB. Shi SM, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Sep 7;51(9):712-715. doi: 10.3760/cma.j.issn.1673-0860.2016.09.019. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016. PMID: 27666717 Chinese.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. Cryns K, et al. Hum Mutat. 2003 Oct;22(4):275-87. doi: 10.1002/humu.10258. Hum Mutat. 2003. PMID: 12955714 Review.

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

Zenteno JC, Ruiz G, Pérez-Cano HJ, Camargo M. Zenteno JC, et al. Mol Vis. 2008 Jul 25;14:1353-7. Mol Vis. 2008. PMID: 18660851 Free PMC article.

Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.

Bansal V, Boehm BO, Darvasi A. Bansal V, et al. Diabetologia. 2018 Oct;61(10):2180-2188. doi: 10.1007/s00125-018-4690-3. Epub 2018 Jul 16. Diabetologia. 2018. PMID: 30014265

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B. Safarpour Lima B, et al. Eur J Med Genet. 2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7. Eur J Med Genet. 2016. PMID: 26773575

Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.

Lusk L, Black E, Vengoechea J. Lusk L, et al. J Med Genet. 2020 Feb;57(2):121-123. doi: 10.1136/jmedgenet-2018-105782. Epub 2019 Jul 30. J Med Genet. 2020. PMID: 31363008

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Mair H, Fowler N, Papatzanaki ME, Sudhakar P, Maldonado RS. Mair H, et al. Ophthalmic Genet. 2022 Aug;43(4):567-572. doi: 10.1080/13816810.2022.2068038. Epub 2022 Apr 21. Ophthalmic Genet. 2022. PMID: 35450504

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