TY - JOUR
T1 - A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
AU - de Vries, Yne
AU - Lwiwski, Nikki
AU - Levitus, Marieke
AU - Kuyt, Bertus
AU - Israels, Sara J.
AU - Arwert, Fré
AU - Zwaan, Michel
AU - Greenberg, Cheryl R.
AU - Alter, Blanche P.
AU - Joenje, Hans
AU - Meijers-Heijboer, Hanne
PY - 2012
Y1 - 2012
N2 - 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
AB - 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
U2 - https://doi.org/10.1155/2012/865170
DO - https://doi.org/10.1155/2012/865170
M3 - Article
C2 - 22701786
SN - 2090-1275
VL - 2012
SP - 865170
JO - Anemia
JF - Anemia
M1 - 865170
ER -