Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.

ABSTRACT:

Background

Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic test for this disease. Nevertheless, molecular analysis is always required for the identification of pathogenic alterations in the FA genes.

Results

We report here on a family with FA diagnosis in two siblings. Mitomycin C (MMC) test revealed high level of chromosome breaks and radial figures. In both children, array-Comparative Genomic Hybridization (aCGH) showed maternally inherited 16q24.3 deletion, including FANCA gene, and next generation sequencing (NGS) disclosed paternally inherited novel variants in the FANCA gene-Asn1113Tyr and Ser890Asn. A third sib

SUBMITTER: Repczynska A 

PROVIDER: S-EPMC9295492 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature