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BMC Pediatrics

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Open Access 01-12-2018 | Case report

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

Authors: Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng

Published in: BMC Pediatrics | Issue 1/2018

Abstract

Background

Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies.

Case presentation

Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis. Finally he was diagnosed with WS because of diabetes mellitus (DM) and optic atrophy (OA). Eight exons and flanking introns of WFS1 gene were analyzed by sequencing. A novel mutation c.1760G > A in WFS1 gene of exon 8 was identified.

Conclusion

This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.

Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346:1458–63.CrossRefPubMed

Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, et al. Phenotypic characteristics of early Wolfram syndrome. Orphanet J Rare Dis. 2013;8:64. https://doi.org/10.1186/1750-1172-8-64.CrossRefPubMedPubMedCentral

Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Ann Neurol. 2011;69:501–8. https://doi.org/10.1002/ana.22160.CrossRefPubMed

Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr. 2012;24:512–7. https://doi.org/10.1097/MOP.0b013e328354ccdf.PubMed

Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. Wfs1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet. 2001;10:47–84.CrossRef

Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet. 2011;79:103–17. https://doi.org/10.1111/j.1399-0004.2010.01522.x.CrossRefPubMed

Zmyslowska A, Borowiec M, Fichna P, Iwaniszewska B, Majkowska L, Pietrzak I, et al. Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications. Exp Clin Endocrinol Diabetes. 2014;122:35–8. https://doi.org/10.1055/s-0033-1357160.CrossRefPubMed

Pennings RJ, Huygen PL, van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, et al. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Audiol Neurooto. 2004;9:51–62. https://doi.org/10.1159/000074187.CrossRef

Plantinga RF, Pennings RJ, Huygen PL, Bruno R, Eller P, Barrett TG, et al. Hearing impairment in genotyped Wolfram syndrome patients. Ann Otol Rhinol Laryngol. 2008;117:494–500. https://doi.org/10.1177/000348940%20811700704.CrossRefPubMed

10.

Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet. 1997;34:838–41.CrossRefPubMedPubMedCentral

11.

Ribeiro MR, Crispim F, Vendramini MF, Moisés RS. Wolfram syndrome: from definition to molecular bases. Arq Bras Endocrinol Metabol. 2006;50:839–44.CrossRefPubMed

12.

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. CrossRefPubMedPubMedCentral

13.

Yamamoto H, Hofmann S, Hamasaki DI, Yamamoto H, Kreczmanski P, Schmitz C, et al. Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. Exp Eye Res. 2006;83:1303–6. https://doi.org/10.1016/j.exer.2006.06.010.CrossRefPubMed

14.

Kawazoe T, Araki M, Lin Y, Ogawa M, Okamoto T, Yamamura T, et al. New-onset type I diabetes mellitus and anti-aquaporin-4 antibody positive optic neuritis associated with type I interferon therapy for chronic hepatitis C. Intern Med. 2012;51:2625–9. https://doi.org/10.2169/internalmedicine.51.7771.CrossRefPubMed

Title: A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
Authors: Min Li
Jia Liu
Huan Yi
Li Xu
Xiufeng Zhong
Fuhua Peng
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-018-1091-1

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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