A new mutation in a patient with Wolfram syndrome
نویسندگان
چکیده
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 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)...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کامل[Report of a Brazilian patient with Wolfram Syndrome].
OBJECTIVE To report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and psychiatric disorders. However, not all manifestations are present at diagnosis, indicating the necessity of long-ter...
متن کاملAutosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritance. We sequenced the exomes of four affected members of this family and performed follow-up genoty...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2018
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2016.06.013