A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
نویسندگان
چکیده
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.
منابع مشابه
Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutat...
متن کاملAuthor’s response to reviews Title: A novel mutation of WFS1 gene in a Chinese patient withWolfram syndrome : a case report
Thank you very much for your letter and we greatly appreciate your efforts to have the manuscript ‘A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome : a case report’ (ID: BPED-D-17-00294) reviewed. Additionally, we would also like to thank the reviewers for the helpful and constructive comments. Those comments are all valuable and very helpful for revising and improving o...
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