FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México
Abstract Background Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remarkable feature of FA; at least 22 FANC genes are kno...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-06-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.710 |
| _version_ | 1818946999960993792 |
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| author | Benilde García‐de Teresa Sara Frias Bertha Molina María Teresa Villarreal Alfredo Rodriguez Alessandra Carnevale Gerardo López‐Hernández Lilia Vollbrechtshausen Alberto Olaya‐Vargas Leda Torres |
| author_facet | Benilde García‐de Teresa Sara Frias Bertha Molina María Teresa Villarreal Alfredo Rodriguez Alessandra Carnevale Gerardo López‐Hernández Lilia Vollbrechtshausen Alberto Olaya‐Vargas Leda Torres |
| author_sort | Benilde García‐de Teresa |
| collection | DOAJ |
| description | Abstract Background Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remarkable feature of FA; at least 22 FANC genes are known to cooperate in a unique FA/BRCA repair pathway. A common rule on the mutations found in these genes is allelic heterogeneity, except for mutations known to have arisen from a founder effect like the FANCC c.67delG in the Dutch Mennonite Community. Here, we present an 11‐year‐old male patient, member of the Mennonite Community of Tamaulipas México, with a clinical and cytogenetic diagnosis of FA. Method Chromosome fragility test was performed in all siblings. Genomic DNA was obtained from peripheral blood samples. Sanger sequencing was used to identify the FANCC c.67delG mutation (NC_000009.11(NM_000136.2):c.67delG p.(Asp23IlefsTer23)) and its accompanying haplotype. Results The FANCC c.67delG mutation in 13 members of his family confirmed a FA diagnosis in two of his siblings and identified heterozygous carriers. Haplotype analysis supports that in this family, FA is caused by the founder mutation that initially appeared in Mennonite Dutch and followed this population's migrations through Canada and further to Mexico. Conclusion The identification of the FANCC c.67delG mutation in this family not only allows proper genetic counseling, but it also grants the possibility to raise awareness of FA risk among the Mennonite community living in Mexico. |
| first_indexed | 2024-12-20T08:23:56Z |
| format | Article |
| id | doaj.art-46ea93e8662542388c92df49b79162f5 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-20T08:23:56Z |
| publishDate | 2019-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-46ea93e8662542388c92df49b79162f52022-12-21T19:46:54ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-06-0176n/an/a10.1002/mgg3.710FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, MéxicoBenilde García‐de Teresa0Sara Frias1Bertha Molina2María Teresa Villarreal3Alfredo Rodriguez4Alessandra Carnevale5Gerardo López‐Hernández6Lilia Vollbrechtshausen7Alberto Olaya‐Vargas8Leda Torres9Laboratorio de Citogenética Instituto Nacional de Pediatría Ciudad de México MéxicoLaboratorio de Citogenética Instituto Nacional de Pediatría Ciudad de México MéxicoLaboratorio de Citogenética Instituto Nacional de Pediatría Ciudad de México MéxicoLaboratorio de Enfermedades Cardiovasculares Instituto Nacional de Medicina Genómica Ciudad de México MéxicoLaboratorio de Citogenética Instituto Nacional de Pediatría Ciudad de México MéxicoLaboratorio de Enfermedades Mendelianas Instituto Nacional de Medicina Genómica Ciudad de México MéxicoServicio de Trasplante de Células Progenitoras Hematopoyéticas Instituto Nacional de Pediatría Ciudad de México MéxicoServicio de Oncología Hospital Infantil de Tamaulipas Ciudad Victoria, Tamaulipas MéxicoServicio de Trasplante de Células Progenitoras Hematopoyéticas Instituto Nacional de Pediatría Ciudad de México MéxicoLaboratorio de Citogenética Instituto Nacional de Pediatría Ciudad de México MéxicoAbstract Background Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remarkable feature of FA; at least 22 FANC genes are known to cooperate in a unique FA/BRCA repair pathway. A common rule on the mutations found in these genes is allelic heterogeneity, except for mutations known to have arisen from a founder effect like the FANCC c.67delG in the Dutch Mennonite Community. Here, we present an 11‐year‐old male patient, member of the Mennonite Community of Tamaulipas México, with a clinical and cytogenetic diagnosis of FA. Method Chromosome fragility test was performed in all siblings. Genomic DNA was obtained from peripheral blood samples. Sanger sequencing was used to identify the FANCC c.67delG mutation (NC_000009.11(NM_000136.2):c.67delG p.(Asp23IlefsTer23)) and its accompanying haplotype. Results The FANCC c.67delG mutation in 13 members of his family confirmed a FA diagnosis in two of his siblings and identified heterozygous carriers. Haplotype analysis supports that in this family, FA is caused by the founder mutation that initially appeared in Mennonite Dutch and followed this population's migrations through Canada and further to Mexico. Conclusion The identification of the FANCC c.67delG mutation in this family not only allows proper genetic counseling, but it also grants the possibility to raise awareness of FA risk among the Mennonite community living in Mexico.https://doi.org/10.1002/mgg3.710FANCCFANCC c.67delGfanconi anemiaMennonite |
| spellingShingle | Benilde García‐de Teresa Sara Frias Bertha Molina María Teresa Villarreal Alfredo Rodriguez Alessandra Carnevale Gerardo López‐Hernández Lilia Vollbrechtshausen Alberto Olaya‐Vargas Leda Torres FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México Molecular Genetics & Genomic Medicine FANCC FANCC c.67delG fanconi anemia Mennonite |
| title | FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México |
| title_full | FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México |
| title_fullStr | FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México |
| title_full_unstemmed | FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México |
| title_short | FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México |
| title_sort | fancc dutch founder mutation in a mennonite family from tamaulipas mexico |
| topic | FANCC FANCC c.67delG fanconi anemia Mennonite |
| url | https://doi.org/10.1002/mgg3.710 |
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