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FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México

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 co...

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Detalles Bibliográficos
Autores principales: García‐de Teresa, Benilde, Frias, Sara, Molina, Bertha, Villarreal, María Teresa, Rodriguez, Alfredo, Carnevale, Alessandra, López‐Hernández, Gerardo, Vollbrechtshausen, Lilia, Olaya‐Vargas, Alberto, Torres, Leda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565560/
https://www.ncbi.nlm.nih.gov/pubmed/31044565
http://dx.doi.org/10.1002/mgg3.710
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author García‐de Teresa, Benilde
Frias, Sara
Molina, Bertha
Villarreal, María Teresa
Rodriguez, Alfredo
Carnevale, Alessandra
López‐Hernández, Gerardo
Vollbrechtshausen, Lilia
Olaya‐Vargas, Alberto
Torres, Leda
author_facet García‐de Teresa, Benilde
Frias, Sara
Molina, Bertha
Villarreal, María Teresa
Rodriguez, Alfredo
Carnevale, Alessandra
López‐Hernández, Gerardo
Vollbrechtshausen, Lilia
Olaya‐Vargas, Alberto
Torres, Leda
author_sort García‐de Teresa, Benilde
collection PubMed
description 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.
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spelling pubmed-65655602019-06-20 FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México García‐de Teresa, Benilde Frias, Sara Molina, Bertha Villarreal, María Teresa Rodriguez, Alfredo Carnevale, Alessandra López‐Hernández, Gerardo Vollbrechtshausen, Lilia Olaya‐Vargas, Alberto Torres, Leda Mol Genet Genomic Med Clinical Reports 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. John Wiley and Sons Inc. 2019-05-01 /pmc/articles/PMC6565560/ /pubmed/31044565 http://dx.doi.org/10.1002/mgg3.710 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Clinical Reports
García‐de Teresa, Benilde
Frias, Sara
Molina, Bertha
Villarreal, María Teresa
Rodriguez, Alfredo
Carnevale, Alessandra
López‐Hernández, Gerardo
Vollbrechtshausen, Lilia
Olaya‐Vargas, Alberto
Torres, Leda
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México
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, méxico
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565560/
https://www.ncbi.nlm.nih.gov/pubmed/31044565
http://dx.doi.org/10.1002/mgg3.710
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