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Case Report

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

, ORCID Icon, , , , , , , , & show all
Pages 304-312 | Received 11 Apr 2022, Accepted 01 Aug 2022, Published online: 12 Sep 2022

References

  • Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc. 1938;13:715–18.
  • Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458–63. doi:10.1016/s0140-6736(95)92473-6.
  • Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab. 2004;89(4):1656–61. doi:10.1210/jc.2002-030015.
  • Lombardo F, Salzano G, Di Bella C, Aversa T, Pugliatti F, Cara S, Valenzise M, De Luca F, Rigoli L. Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected. J Endocrinol Invest. 2014;37(2):195–202. doi:10.1007/s40618-013-0039-4.
  • Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep. 2016;16(1):6. doi:10.1007/s11892-015-0702-6.
  • Rigoli L, Bramanti P, Di Bella C, De Luca F. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. Pediatr Res. 2018;83(5):921–29. doi:10.1038/pr.2018.17.
  • Strom TM, Hörtnagel 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(13):2021–28. doi:10.1093/hmg/7.13.2021.
  • Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, 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(22):2501–08. doi:10.1093/hmg/10.22.2501.
  • Delvecchio M, Iacoviello M, Pantaleo A, Resta N. Clinical spectrum associated with Wolfram syndrome type 1 and type 2: a review on genotype–phenotype correlations. Int J Environ Res Public Health. 2021;18(9):4796. doi:10.3390/ijerph18094796.
  • Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, 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(22):2509–14. doi:10.1093/hmg/10.22.2509.
  • D’Annunzio G, Minuto N, D’Amato E, De Toni T, Lombardo F, Pasquali L, Lorini R. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. Diabetes Care. 2008;31(9):1743–45. doi:10.2337/dc08-0178.
  • Sobhani M, Tabatabaiefar MA, Ghafouri-Fard S, Rajab A, Hojjat A, Kajbafzadeh AM, Noori-Daloii MR. Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. BMC Med Genet. 2020;21(1):13. doi:10.1186/s12881-020-0950-4.
  • Morikawa S, Tajima T, Nakamura A, Ishizu K, Ariga T. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. Pediatr Diabetes. 2017;18(8):934–41. doi:10.1111/pedi.12513.
  • De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al. Dominant ER stress-inducing WFS1 mutations underlie a genetic syndrome of neonatal/infancy-onset diabetes, congenital sensorineural deafness, and congenital cataracts. Diabetes. 2017;66(7):2044–53. doi:10.2337/db16-1296.
  • Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A. 2007;143A(14):1605–12. doi:10.1002/ajmg.a.31809.
  • Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care. 1995;18(12):1566–70. doi:10.2337/diacare.18.12.1566.
  • Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat. 2005;25(1):99–100. doi:10.1002/humu.9300.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. ACMG laboratory quality assurance committee. standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24. doi:10.1038/gim.2015.30.
  • Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura KI. 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(8):395–99. doi:10.1007/s100380200057.
  • Rigoli L, Caruso V, Salzano G, Lombardo F. Wolfram syndrome 1: from genetics to therapy. Int J Environ Res Public Health. 2022;19(6):3225. doi:10.3390/ijerph19063225.
  • Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, et al. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care. 2011;34(7):1503–10. doi:10.2337/dc10-1937.
  • Bueno GE, Ruiz-Castañeda D, Martínez JR, Muñoz MR, Alascio PC. Natural history and clinical characteristics of 50 patients with Wolfram syndrome. Endocrine. 2018;61(3):440–46. doi:10.1007/s12020-018-1608-2.
  • Barrett TG, Bundey SE, Fielder AR, Good PA. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye (Lond). 1997;11(Pt 6):882–88. doi:10.1038/eye.1997.226.
  • Baz P, Azar ST, Medlej R, Bejjani R, Halabi G, Salti I. Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients. Diabetes Care. 1999;22(8):1376–78. doi:10.2337/diacare.22.8.1376a.
  • Gasparin MR, Crispim F, Paula SL, Freire MB, Dalbosco IS, Della Manna T, Salles JE, Gasparin F, Guedes A, Marcantonio JM, et al. Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome. Eur J Endocrinol. 2009;160(2):309–16. doi:10.1530/EJE-08-0698.
  • Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L, Washington University Wolfram Study Group. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. J Aapos. 2014;18(5):461–5.e1. doi:10.1016/j.jaapos.2014.07.162.
  • Karasik A, O’Hara C, Srikanta S, Swift M, Soeldner JS, Kahn CR, Herskowitz RD. Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram’s syndrome. Diabetes Care. 1989;12(2):135–38. doi:10.2337/diacare.12.2.135.
  • Al-Till M, Jarrah NS, Ajlouni KM. Ophthalmologic findings in fifteen patients with Wolfram syndrome. Eur J Ophthalmol. 2002;12(2):84–88. doi:10.1177/112067210201200202.
  • Soares A, Mota A, Fonseca S, Faria O, Brandão E, Dos Reis FF, Gentil R, Guimarães S, Mendonça L. Ophthalmologic manifestations of Wolfram syndrome: report of 14 cases. Ophthalmologica. 2019;241(2):116–19. doi:10.1159/000490535.
  • Ustaoglu M, Onder F, Karapapak M, Taslidere H, Guven D. Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. Eur J Ophthalmol. 2020;30(5):1099–105. doi:10.1177/1120672119842489.
  • Mtanda AT, Cruysberg JR, Pinckers AJ. Optic atrophy in Wolfram syndrome. Ophthalmic Paediatr Genet. 1986;7(3):159–65. doi:10.3109/13816818609004133.
  • 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;13(12):1275–84. doi:10.1038/sj.ejhg.5201491.
  • Ganie MA, Laway BA, Nisar S, Wani MM, Khurana ML, Ahmad F, Ahmed S, Gupta P, Ali I, Shabir I, et al. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Diabet Med. 2011;28(11):1337–42. doi:10.1111/j.1464-5491.2011.03377.x.
  • Blanco-Aguirre ME, Rivera-De la Parra D, Tapia-Garcia H, Gonzalez-Rodriguez J, Welskin D, Arroyo-Yllanes ME, Escudero I, Nuñez-Hernandez JA, Medina-Bravo P, Zenteno JC. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. Gene. 2015;566(1):63–67. doi:10.1016/j.gene.2015.04.040.
  • Das L, Rai A, Mavuduru R, Vaiphei K, Sharma A, Gupta V, Bhadada SK, Lodha S, Panda N, Bhansali A, et al. Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure. Endocrine. 2020;69(2):420–29. doi:10.1007/s12020-020-02320-6.
  • Kabanovski A, Donaldson L, Margolin E. Neuro-Ophthalmological manifestations of Wolfram syndrome: case series and review of the literature. J Neurol Sci. 2022;437:120267. doi:10.1016/j.jns.2022.120267.
  • Mirrahimi M, Safi S, Mohammadzadeh M, Doozandeh A, Suri F. Variable expressivity of Wolfram syndrome in a family with multiple affected subjects. J Ophthalmic Vis Res. 2021;16(4):602–10. doi:10.18502/jovr.v16i4.9750.
  • Eller P, Föger B, Gander R, Sauper T, Lechleitner M, Finkenstedt G, Patsch JR. Wolfram syndrome: a clinical and molecular genetic analysis. J Med Genet. 2001;38(11):E37. doi:10.1136/jmg.38.11.e37.
  • Manaviat MR, Rashidi M, Mohammadi SM. Wolfram syndrome presenting with optic atrophy and diabetes mellitus: two case reports. Cases J. 2009;2(1):9355. doi:10.1186/1757-1626-2-9355.
  • Chau TT, Bertrand D, Bruno D. Pigmentary maculopathy in two siblings with wolfram syndrome. Retin Cases Brief Rep. 2010;4(2):150–53. doi:10.1097/ICB.0b013e3181ad3944.
  • Bucca BC, Klingensmith G, Bennett JL. Wolfram syndrome: a rare optic neuropathy in youth with type 1 diabetes. Optom Vis Sci. 2011;88(11):E1383–90. doi:10.1097/OPX.0b013e31822f4d8f.
  • Hernandez-Mijares A, Morillas C, Lluch I, Martinez-Triguero ML, Muñoz ML, Gomez M, Merino MA, Escudero M. Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Diabetes Care. 1999;22(8):1378–79. doi:10.2337/diacare.22.8.1378.
  • Rotsos T, Papakonstantinou E, Symeonidis C, Krassas A, Kamakari S. Wolfram syndrome: a case report of two sisters Wolfram syndrome: case report of two sisters. Am J Ophthalmol Case Rep. 2022;26:101452. doi:10.1016/j.ajoc.2022.101452.
  • Van den Bergh L, Zeyen T, Verhelst J, Mahler C. Wolfram syndrome: a clinical study of two cases. Doc Ophthalmol. 1993;84(2):119–26. doi:10.1007/BF01206246.
  • Langwińska-Wośko E, Broniek-Kowalik K, Szulborski K. A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis. Doc Ophthalmol. 2012;124(2):133–41. doi:10.1007/s10633-011-9308-8.
  • Cillino S, Anastasi M, Lodato G. Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. Graefes Arch Clin Exp Ophthalmol. 1989;227(2):131–35. doi:10.1007/BF02169784.
  • Moghtaderi M, Asadi F, Gorji M, Allahverdi B, Sayarifard F, Rostami P. A rare case of Wolfram syndrome. J Ped Nephrology. 2015;3(1):35–37.
  • Rezaei L. Wolfram syndrome with advanced proliferative diabetic retinopathy: a case report and review. Bina J Ophthalmol. 2020;25(3):331–37.
  • Pilz D, Quarrell OW, Jones EW. Mitochondrial mutation commonly associated with Leber’s hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). J Med Genet. 1994;31(4):328–30. doi:10.1136/jmg.31.4.328.
  • Meyer CH, Rodrigues EB, Schmidt JC. Bilateral progressive optic atrophy and without diabetic retinopathy in a young diabetic patient. Wolfram syndrome: diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). Ophthalmologe. 2004;101(4):394–96. doi:10.1007/s00347-003-0833-z.
  • Megighian D, Savastano M. Wolfram syndrome. Int J Pediatr Otorhinolaryngol. 2004;68(2):243–47. doi:10.1016/j.ijporl.2003.10.012.
  • Naderian G, Ashtari F, Nouri-Mahdavi K, Sajjadi V. A case of wolfram syndrome. J Ophthalmic Vis Res. 2010;5(1):53–56.
  • Paris LP, Usui Y, Serino J, Sá J, Friedlander M. A challenging form of non-autoimmune insulin-dependent diabetes in a Wolfram syndrome patient with a novel sequence variant. J Diabetes Metab. 2015;6(7):1–5. doi:10.4172/2155-6156.1000561.
  • Maleki N, Bashardoust B, Zakeri A, Salehifar A, Tavosi Z. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: a case of Wolfram (DIDMOAD) syndrome. J Curr Ophthalmol. 2016 Jan 2;27(3–4):132–35. doi:10.1016/j.joco.2015.11.003.
  • Krolewski AS, Warram JH, Rand LI, Kahn CR. Epidemiologic approach to the etiology of type I diabetes mellitus and its complications. N Engl J Med. 1987;317(22):1390–98. doi:10.1056/NEJM198711263172206.
  • Bansal V, Boehm BO, Darvasi A. 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. Diabetologia. 2018;61(10):2180–88. doi:10.1007/s00125-018-4690-3.
  • Torkamandi S, Rezaei S, Mirfakhraie R, Bayat S, Piltan S, Gholami M. A homozygous missense mutation of WFS1 gene causes Wolfram’s syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity). J Clin Lab Anal. 2020;34(8):e23358. doi:10.1002/jcla.23358.
  • Wang DD, Hu FY, Gao FJ, Zhang SH, Xu P, Tian GH, Wu JH. The precise diagnosis of Wolfram syndrome type 1 based on next-generation sequencing. Front Genet. 2019;10:1217. doi:10.3389/fgene.2019.01217.
  • de Heredia ML, Clèries R, Nunes V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genet Med. 2013;15(7):497–506. doi:10.1038/gim.2012.180.
  • Yamaguchi S, Ishihara H, Tamura A, Yamada T, Takahashi R, Takei D, Katagiri H, Oka Y. Endoplasmic reticulum stress and N-glycosylation modulate expression of WFS1 protein. Biochem Biophys Res Commun. 2004;325(1):250–56. doi:10.1016/j.bbrc.2004.10.017.
  • Ueda K, Kawano J, Takeda K, Yujiri T, Tanabe K, Anno T, Akiyama M, Nozaki J, Yoshinaga T, Koizumi A, et al. Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur J Endocrinol. 2005;153(1):167–76. doi:10.1530/eje.1.01945.
  • Fonseca SG, Fukuma M, Lipson KL, Nguyen LX, Allen JR, Oka Y, Urano F. 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(47):39609–15. doi:10.1074/jbc.M507426200.
  • Schmidt-Kastner R, Kreczmanski P, Preising M, Diederen R, Schmitz C, Reis D, Blanks J, Dorey CK. Expression of the diabetes risk gene wolframin (WFS1) in the human retina. Exp Eye Res. 2009;89(4):568–74. doi:10.1016/j.exer.2009.05.007.

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