Author’s response to reviews Title: A novel mutation of WFS1 gene in a Chinese patient withWolfram syndrome : a case report
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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 our paper. We have studied reviewers’ comments carefully and have tried our best to make revisions which marked in red in the paper. We hope that the revisions could make our article more acceptable.
منابع مشابه
Author’s response to reviews Title: Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Title: Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report Authors: Hye Ji Choi ([email protected]) Joon Suk Lee ([email protected]) Seyoung Yu ([email protected]) Do Hyeon Cha ([email protected]) Heon Yung Gee ([email protected]) Jae Young Choi ([email protected]) Jong Dae Lee ([email protected]) Jinsei Jung ([email protected]) Version: 1 Date: 1...
متن کاملA novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
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)...
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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...
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
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تاریخ انتشار 2018