Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report.

ABSTRACT:

Background

Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on morphological and hematological abnormalities such as pancytopenia, macrocytic anaemia and progressive bone marrow failure. Genetic examination, often very complex, includes chromosomal breakage testing and mutational analysis.

Case presentation

We present a child with clinical diagnosis of Fanconi anemia. Although morphological abnormalities of skin and bones were present from birth, diagnosis was only suspected at the age of 8. Chromosome breakage test in patient's lymphocytes showed incr

SUBMITTER: Repczynska A 

PROVIDER: S-EPMC7418427 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature