A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba MennonitesReport as inadecuate




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AnemiaVolume 2012 2012, Article ID 865170, 6 pages

Research Article

Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands

Department of Pediatrics and Child Health, University of Manitoba, 675 McDermot Avenue, Winnipeg MB, Canada R3E 0V9

Department of Cardiac Sciences, St. Boniface General Hospital, 405 Tache Avenue, Winnipeg MB, Canada R2H 2A6

Medical Diagnostic Center Amstelland, P.O. Box 8018, 1180 LA Amstelveen, The Netherlands

Department of Pediatrics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands

Department of Pediatric Oncology-Hematology, Erasmus MC, Sophia Children-s Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, 6120 Executive Boulevard, 1Executive Plaza South, Room 7020, Rockville, MD 20852-7231, USA

Received 9 January 2012; Accepted 22 March 2012

Academic Editor: Henri J. van de Vrugt

Copyright © 2012 Yne de Vries et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Fanconi anemia FA is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes have been identified. Founder mutations have been found in different FA genes in several populations. The majority of Dutch FA patients belongs to complementation group FA-C. Here, we report 15 patients of Dutch ancestry and a large Canadian Manitoba Mennonite kindred carrying the FANCC c.67delG mutation. Genealogical investigation into the ancestors of the Dutch patients shows that these ancestors lived in four distinct areas in The Netherlands. We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.





Author: Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg,

Source: https://www.hindawi.com/



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