Title |
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
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Published in |
BMC Medical Genomics, January 2012
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DOI | 10.1186/1471-2350-13-3 |
Pubmed ID | |
Authors |
Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha |
Abstract |
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Germany | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 2% |
Japan | 1 | 2% |
Spain | 1 | 2% |
Unknown | 63 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 19 | 29% |
Student > Bachelor | 9 | 14% |
Student > Master | 8 | 12% |
Professor | 5 | 8% |
Student > Ph. D. Student | 5 | 8% |
Other | 12 | 18% |
Unknown | 8 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 15 | 23% |
Biochemistry, Genetics and Molecular Biology | 13 | 20% |
Agricultural and Biological Sciences | 11 | 17% |
Neuroscience | 5 | 8% |
Nursing and Health Professions | 3 | 5% |
Other | 8 | 12% |
Unknown | 11 | 17% |