Title |
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
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Published in |
BMC Pediatrics, March 2018
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DOI | 10.1186/s12887-018-1091-1 |
Pubmed ID | |
Authors |
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng |
Abstract |
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. 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. 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. |
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Unknown | 1 | 100% |
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Members of the public | 1 | 100% |
Mendeley readers
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Unknown | 31 | 100% |
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Student > Bachelor | 5 | 16% |
Researcher | 5 | 16% |
Other | 3 | 10% |
Student > Master | 3 | 10% |
Student > Ph. D. Student | 1 | 3% |
Other | 3 | 10% |
Unknown | 11 | 35% |
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Medicine and Dentistry | 6 | 19% |
Biochemistry, Genetics and Molecular Biology | 3 | 10% |
Neuroscience | 3 | 10% |
Nursing and Health Professions | 2 | 6% |
Agricultural and Biological Sciences | 2 | 6% |
Other | 3 | 10% |
Unknown | 12 | 39% |