A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
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 hav...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Anemia |
| Online Access: | http://dx.doi.org/10.1155/2012/865170 |
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| _version_ | 1832568063046713344 |
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| author | Yne de Vries Nikki Lwiwski Marieke Levitus Bertus Kuyt Sara J. Israels Fré Arwert Michel Zwaan Cheryl R. Greenberg Blanche P. Alter Hans Joenje Hanne Meijers-Heijboer |
| author_facet | Yne de Vries Nikki Lwiwski Marieke Levitus Bertus Kuyt Sara J. Israels Fré Arwert Michel Zwaan Cheryl R. Greenberg Blanche P. Alter Hans Joenje Hanne Meijers-Heijboer |
| author_sort | Yne de Vries |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3ff4fa8f971043d48971901d670d6f0b |
| institution | Kabale University |
| issn | 2090-1267 2090-1275 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Anemia |
| spelling | doaj-art-3ff4fa8f971043d48971901d670d6f0b2025-02-03T00:59:48ZengWileyAnemia2090-12672090-12752012-01-01201210.1155/2012/865170865170A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba MennonitesYne de Vries0Nikki Lwiwski1Marieke Levitus2Bertus Kuyt3Sara J. Israels4Fré Arwert5Michel Zwaan6Cheryl R. Greenberg7Blanche P. Alter8Hans Joenje9Hanne Meijers-Heijboer10Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Pediatrics and Child Health, University of Manitoba, 675 McDermot Avenue, Winnipeg MB, R3E 0V9, CanadaDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Pediatrics and Child Health, University of Manitoba, 675 McDermot Avenue, Winnipeg MB, R3E 0V9, CanadaDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Pediatrics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Pediatrics and Child Health, University of Manitoba, 675 McDermot Avenue, Winnipeg MB, R3E 0V9, CanadaClinical 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, USADepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsFanconi 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.http://dx.doi.org/10.1155/2012/865170 |
| spellingShingle | Yne de Vries Nikki Lwiwski Marieke Levitus Bertus Kuyt Sara J. Israels Fré Arwert Michel Zwaan Cheryl R. Greenberg Blanche P. Alter Hans Joenje Hanne Meijers-Heijboer A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites Anemia |
| title | A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites |
| title_full | A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites |
| title_fullStr | A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites |
| title_full_unstemmed | A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites |
| title_short | A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites |
| title_sort | dutch fanconi anemia fancc founder mutation in canadian manitoba mennonites |
| url | http://dx.doi.org/10.1155/2012/865170 |
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