Title |
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
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Published in |
Genome Medicine, January 2013
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DOI | 10.1186/gm471 |
Pubmed ID | |
Authors |
Kai Wang, Cecilia Kim, Jonathan Bradfield, Yunfei Guo, Elina Toskala, Frederick G Otieno, Cuiping Hou, Kelly Thomas, Christopher Cardinale, Gholson J Lyon, Ryan Golhar, Hakon Hakonarson |
Abstract |
Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families. We identified a family quartet with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, we identified one additional unrelated patient with a comparable phenotype. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 10 | 48% |
United Kingdom | 2 | 10% |
France | 2 | 10% |
Australia | 1 | 5% |
India | 1 | 5% |
Unknown | 5 | 24% |
Demographic breakdown
Type | Count | As % |
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Scientists | 11 | 52% |
Members of the public | 10 | 48% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 1% |
United States | 1 | 1% |
Italy | 1 | 1% |
Unknown | 81 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 20 | 24% |
Student > Ph. D. Student | 16 | 19% |
Student > Bachelor | 7 | 8% |
Other | 6 | 7% |
Student > Master | 6 | 7% |
Other | 12 | 14% |
Unknown | 17 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 24 | 29% |
Biochemistry, Genetics and Molecular Biology | 18 | 21% |
Medicine and Dentistry | 18 | 21% |
Neuroscience | 2 | 2% |
Immunology and Microbiology | 1 | 1% |
Other | 3 | 4% |
Unknown | 18 | 21% |