clinical and genetic study of the Wolfram (DIDMOAD) syndrome

by Timothy Geoffrey Barrett

Publisher: University of Birmingham in Birmingham

Written in English
Published: Downloads: 81
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Edition Notes

Thesis (Ph.D.) - University of Birmingham, Department of Paediatrics and Child Health, Faculty of Medicine and Dentistry, 1997.

Statementby Timothy Geoffrey Barrett.
ID Numbers
Open LibraryOL17204697M

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clinical and genetic study of the Wolfram (DIDMOAD) syndrome by Timothy Geoffrey Barrett Download PDF EPUB FB2

Genetic-linkage studies linked Wolfram syndrome to the short arm of chromosome 4 (4p16) (Polymeropoulos et al. ; Collier et al. The gene, WFS1/Wolframin, was recently identified by Inoue et al. () and Strom et al. () and was found to consist of eight exons encompassing kb genomic DNA encoding a polypeptide of Cited by:   Free Online Library: Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (cT>A).(CASE REPORT, Report) by "Journal of Clinical Research in Pediatric Endocrinology"; Health, general Deafness Genetic aspects Diabetes Diabetes mellitus Gene mutation Gene mutations Genetic disorders Case studies Diagnosis Genetic screening Usage Genetic.

Editor—Wolfram syndrome (OMIM ) is a progressive neurodegenerative disorder characterised by the association of juvenile, non-autoimmune, insulin dependent diabetes mellitus and optic atrophy. The physician D J Wolfram, who reported four cases inis credited with the first description.1 With the identification of other clinical features, Wolfram syndrome was also referred to Cited by: Purpose Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, sensorineural hearing.

Wolfram syndrome, a rare genetic disorder is characterized by juvenile onset diabetes mellitus and optic atrophy.

We describe two cases of wolfram syndrome belonging to same family; 25 year old female and her only 15 year old brother. In female, diabetes Cited by: 2. The clinical and genetic heterogeneity of mitochondrial diseases as well as the technical difficulty of assessing mitochondrial function create a significant diagnostic challenge.

One major source of cost and time delays in the clinical evaluation of patients with suspected mitochondrial disease is the use of sequential genetic tests to. M.L. was responsible for the collection of clinical and laboratory data for the family, supervised the genetic and linkage studies and their interpretation, and reviewed and edited the manuscript.

F.S.C. is the guarantor of this work and, as such, had full access to all the data in the study and takes responsibility for the integrity of the. Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D).

Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that help control balance and.

The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome.

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A Clinical Study of Sentiments (Genetic Psychology Monographs, Volumes I & II)Author: Murray Henry A., Morgan Christiana D. Wolfram syndrome is a rare, autosome-recessive hereditary disease. In this study, we retrospectively described the series of six WS patients from a single center in the last 15 years from China, characterized clinical features, and reported a novel WFS1 mutation.

Genetic testing for autosomal dominant optic atrophy (OPA1) and spinocerebellar ataxia and 17 were negative. Clinical sequencing of the WFS1 gene was performed through the Casey Eye Institute.

Two mutations were identified. The first variant was cG>T (p.E*), a truncating mutation previously reported in patients affected with WS. Clinical characteristics: WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia.

Wolfram syndrome (WS) or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness) is progressive, neurodegenerative disease with an autosomal recessive mode of inheritance, and its estimated incidence is 1 our oflive births (1,2).The minimum criterion for detecting WS is an association between early onset diabetes mellitus (DM), generally before the age of 10, and.

To register or if you have any questions regarding Wolfram syndrome and genetic testing: Email ([email protected]) Call Wolfram Syndrome International Registry & Clinical Study. Euclid Ave., Box St. Louis, MO © Washington University in St.

Louis. Clinical Manifestations of Wolfram Syndrome. Wolfram syndrome is a rare, monogenic life-threatening disease caused largely by mutations in the WFS1 gene or, in a small fraction of patients, pathogenic variants in the CISD2 insulin-dependent diabetes mellitus, optic nerve atrophy, and neurodegeneration are cardinal features of this disease, many patients also develop other.

Wolfram syndrome is caused by mutations in the WFS1 (most common) or WFS2 (CISD2) gene that are inherited in an autosomal recessive pattern in most affected individuals, although dominant forms exist.

Recessive genetic disorders occur when an individual inherits two copies of an altered gene for the same trait, one from each parent. Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function.

WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and.

Reiner A. Veitia, PhD, is a Professor of Genetics at Paris Diderot University, Paris, France. Veitia's research focus is primarily on the genetics of premature ovarian insufficiency, nonepithelial ovarian malignancies and the molecular basis of genetic dominance. More information. OBJECTIVE —Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD).

The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 inlive births, with a 1 in carrier frequency. This new book, at just under pages, from a long established author and teacher of medical genetics is reaching this goal.

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The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1, children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic Reviews: 1.

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Objective: Wolfram syndrome (WS) is a rare, autosomal recessive, progressive disease associated with considerable morbidity, even for heterozygous individuals.

Our aim was to describe the cases of 2 brothers with WS and emphasize the importance of this syndrome as a differential diagnosis for autoimmune type 1 diabetes. : Population Dynamics in Prehistory and Early History: New Approaches by Using Stable Isotopes and Genetics (Berlin Studies of the Ancient World) (): Kaiser, Elke, Burger, Joachim, Schier, Wolfram: BooksReviews: 1.

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Although this study needed further confirmation, and its implications for medical practice remain far from clear, the response illustrates the mounting pressures for a rapid transition from gene discovery to integration in clinical practice, which could result in the premature development and offering of genetic tests.

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The role of variation in WFS1 in type 2 diabetes susceptibility is not known. We sequenced the WFS1 gene in 29 type 2 diabetic probands and identified 12 coding variants.

We used parent-offspring trios to look for familial association; the R allele at residue (P =