Wolfram-like syndrome – another face of a rare disease in children
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Mariusz Smetek
Abstract
Objectives
The presence of two pathogenic variants in the WFS1 gene leads to the occurrence of a rare genetic disease in children – Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the WFS1 gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like).
Case presentation
A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result). The genetic analysis did not confirm WFS syndrome in the boy but identified a single likely pathogenic de novo variant in the WFS1 gene, which confirmed WFS-like syndrome.
Conclusions
Currently, the patient is under the care of an endocrinologist, diabetologist, ophthalmologist, audiologist, and also psychologist because of mood disorders.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from the parents of a patient included in this study.
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Ethical approval: Not applicable.
References
1. Fonseca, SG, Ishigaki, S, Oslowski, CM, Lu, S, Lipson, KL, Ghosh, R, et al.. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest 2010;120:744–55. https://doi.org/10.1172/jci39678.Suche in Google Scholar
2. Tranebjærg, L, Barrett, T, Rendtorff, ND. WFS1 Wolfram syndrome spectrum disorder. In: Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Mirzaa, G, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2009:1993–2021 pp.Suche in Google Scholar
3. Kumar, S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes 2010;11:28–37. https://doi.org/10.1111/j.1399-5448.2009.00518.x.Suche in Google Scholar PubMed
4. De Franco, E, Flanagan, SE, Yagi, T, Abreu, D, Mahadevan, J, Johnson, MB, 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;66:2044–53. https://doi.org/10.2337/db16-1296.Suche in Google Scholar PubMed PubMed Central
5. Lusk, L, Black, E, Vengoechea, J. 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. J Med Genet 2020;57:121–3. https://doi.org/10.1136/jmedgenet-2018-105782.Suche in Google Scholar PubMed
6. Eiberg, H, Hansen, L, Kjer, B, Hansen, T, Pedersen, O, Bille, M, 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;43:435–40. https://doi.org/10.1136/jmg.2005.034892.Suche in Google Scholar PubMed PubMed Central
7. 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;25:657–61. https://doi.org/10.1111/j.1464-5491.2008.02448.x.Suche in Google Scholar PubMed
8. Soliman, AT, Bappal, B, Darwish, A, Rajab, A, Asfour, M. Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study. Arch Dis Child 1995;73:251–3. https://doi.org/10.1136/adc.73.3.251.Suche in Google Scholar PubMed PubMed Central
9. Papadimitriou, A, Fountzoula, I, Grigoriadou, D, Christianakis, S, Tzortzatou, G. Testicular descent related to growth hormone treatment. J Pediatr Endocrinol Metab 2003;16:561–3. https://doi.org/10.1515/jpem.2003.16.4.561.Suche in Google Scholar PubMed
10. Rendtorff, ND, Lodahl, M, Boulahbel, H, Johansen, IR, Pandya, A, Welch, KO, et al.. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet 2011;155A:1298–313. https://doi.org/10.1002/ajmg.a.33970.Suche in Google Scholar PubMed PubMed Central
11. Tessa, A, Carbone, I, Matteoli, MC, Bruno, C, Patrono, C, Patera, IP, et al.. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 2001;17:348–9. https://doi.org/10.1002/humu.32.Suche in Google Scholar PubMed
12. Reschke, F, Rohayem, J, Maffei, P, Dassie, F, Schwandt, A, de Beaufort, C, et al.. Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome. Endocrine 2021;71:626–33. https://doi.org/10.1007/s12020-021-02622-3.Suche in Google Scholar PubMed
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Medullary thyroid carcinoma in children: current state of the art and future perspectives
- Original Articles
- Newly defined peroxisomal disease with novel ACBD5 mutation
- Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center
- Sleep disorder and behavior problems in children with type 1 diabetes mellitus
- Increased hepcidin levels and non-alcoholic fatty liver disease in obese prepubertal children: a further piece to the complex puzzle of metabolic derangements
- Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia
- The association between vitamin D levels and metabolic syndrome components among metropolitan adolescent population
- Utility of wrist circumference in recognition of metabolic syndrome in overweight and obese South Indian children and adolescents
- Ketoacidosis in new-onset type 1 diabetes: did the severity increase during the COVID-19 pandemic?
- Predictors of decreased bone mineral density in childhood systemic lupus erythematosus: possible role of osteoprotegerin gene polymorphisms
- Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study
- Biochemical predictors of metabolically unhealthy obesity in children and adolescents
- Adiposity rebound in very-low-birth-weight infants
- The association between a metabolically healthy overweight/obesity phenotype and markers of inflammation among Chinese children and adolescents aged 10–18 years
- Case Reports
- Management of perinatal HPP during critical illness/ECMO
- Wolfram-like syndrome – another face of a rare disease in children
- Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2)
- An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome
