A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
Loading...
Date
2012-6-4
Authors
de Vries, Yne
Lwiwski, Nikki
Levitus, Marieke
Kuyt, Bertus
Israels, Sara J.
Arwert, Fré
Zwaan, Michel
Greenberg, Cheryl R.
Alter, Blanche P.
Joenje, Hans
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Citation
Yne de Vries, Nikki Lwiwski, Marieke Levitus, et al., “A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites,” Anemia, vol. 2012, Article ID 865170, 6 pages, 2012. doi:10.1155/2012/865170