FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, Mexico.

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 fr

SUBMITTER: Garcia-de Teresa B 

PROVIDER: S-EPMC6565560 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature