A Wolfram-like syndrome family: Case report

Abstract

Background

Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome.

Case presentation

We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3: c.2590G > A, p. Glu864Lys).

Conclusion

Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn’t been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.

Keywords

WFS1 gene wolfram-like syndrome sensorineural hearing loss optic atrophy

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References

Urano

. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep 2016; 16: 6. DOI 10.1007/s11892-015-0702-6

Rigoli

Lombardo

Di Bella

. Wolfram syndrome and WFS1 gene. Clin Genet 2011; 79: 103–117. DOI 10.1111/j.1399-0004.2010.01522.x

de Heredia

Clèries

Nunes

. Genotypic classification of patients with wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genetics in Medicine : Official Journal of the American College of Medical Genetics 2013; 15: 497–506. DOI 10.1038/gim.2012.180

Cryns

Sivakumaran

Van den Ouweland

, et al. Mutational spectrum of the WFS1 gene in wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003; 22: 275–287. DOI 10.1002/humu.10258

Inoue

Tanizawa

Wasson

, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (wolfram syndrome). Nat Genet 1998; 20: 143–148. DOI 10.1038/2441

Guan

Wang

Lan

, et al. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss. Mol Genet Genomic Med 2020; 8: e1367. DOI 10.1002/mgg3.1367

Valéro

Bannwarth

Roman

, et al. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Diabetic Medicine : A Journal of the British Diabetic Association 2008; 25: 657–661. DOI 10.1111/j.1464-5491.2008.02448.x

Fukuoka

Kanda

Ohta

, et al. 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. DOI 10.1007/s10038-007-0144-3

Kobayashi

Miyagawa

Nishio

, et al. WFS1 Mutation screening in a large series of Japanese hearing loss patients: massively parallel DNA sequencing-based analysis. PloS one 2018; 13: e0193359. DOI 10.1371/journal.pone.0193359

10.

Eiberg

Hansen

Kjer

, 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. DOI 10.1136/jmg.2005.034892

11.

Pallotta

Tascini

Crispoldi

, et al. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives. J Transl Med 2019; 17: 238. DOI 10.1186/s12967-019-1993-1