Title |
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
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Published in |
BMC Medical Genomics, July 2014
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DOI | 10.1186/1471-2350-15-88 |
Pubmed ID | |
Authors |
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese |
Abstract |
Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus and psychiatric disorders, and for the presence of bleeding upper intestinal ulcers and defective platelet aggregation. After the first report of consanguineous Jordanian patients, no further cases of WFS2 have been reported worldwide. We describe the first Caucasian patient affected by WFS2. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
United Kingdom | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 1% |
Italy | 1 | 1% |
Unknown | 68 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 12 | 17% |
Student > Ph. D. Student | 11 | 16% |
Student > Bachelor | 10 | 14% |
Student > Master | 9 | 13% |
Student > Postgraduate | 5 | 7% |
Other | 10 | 14% |
Unknown | 13 | 19% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 17 | 24% |
Biochemistry, Genetics and Molecular Biology | 16 | 23% |
Agricultural and Biological Sciences | 9 | 13% |
Nursing and Health Professions | 4 | 6% |
Neuroscience | 3 | 4% |
Other | 7 | 10% |
Unknown | 14 | 20% |