A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

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dc.contributor.authorde Vries, Yne
dc.contributor.authorLwiwski, Nikki
dc.contributor.authorLevitus, Marieke
dc.contributor.authorKuyt, Bertus
dc.contributor.authorIsraels, Sara J.
dc.contributor.authorArwert, Fré
dc.contributor.authorZwaan, Michel
dc.contributor.authorGreenberg, Cheryl R.
dc.contributor.authorAlter, Blanche P.
dc.contributor.authorJoenje, Hans
dc.contributor.authorMeijers-Heijboer, Hanne
dc.date.accessioned2015-05-14T16:28:11Z
dc.date.available2015-05-14T16:28:11Z
dc.date.issued2012-6-4
dc.date.updated2015-03-29T13:31:05Z
dc.description.abstractFanconi 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.
dc.description.versionPeer Reviewed
dc.identifier.citationYne 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
dc.identifier.urihttp://dx.doi.org/10.1155/2012/865170
dc.identifier.urihttp://hdl.handle.net/1993/30493
dc.language.rfc3066en
dc.rightsopen accessen_US
dc.rights.holderCopyright © 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.
dc.titleA Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
dc.typeJournal Article
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