Title |
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
|
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Published in |
Orphanet Journal of Rare Diseases, November 2011
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DOI | 10.1186/1750-1172-6-74 |
Pubmed ID | |
Authors |
Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner |
Abstract |
Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two genes are commonly seen in founder populations or in societies with a high degree of consanguineous marriages. One particular mutation in AMN, c.208-2A>G, causing an out-of-frame loss of exon 4 in the mRNA, is responsible for some 15% of IGS cases globally. We present evidence that this founder mutation causes a substantial percentage of cases among diverse ethnicities and that the mutation is as old as human civilization. |
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Geographical breakdown
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 4% |
Argentina | 1 | 4% |
Brazil | 1 | 4% |
Unknown | 25 | 89% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 4 | 14% |
Student > Ph. D. Student | 3 | 11% |
Student > Doctoral Student | 3 | 11% |
Professor | 3 | 11% |
Professor > Associate Professor | 3 | 11% |
Other | 9 | 32% |
Unknown | 3 | 11% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 8 | 29% |
Medicine and Dentistry | 5 | 18% |
Biochemistry, Genetics and Molecular Biology | 4 | 14% |
Linguistics | 2 | 7% |
Psychology | 2 | 7% |
Other | 2 | 7% |
Unknown | 5 | 18% |