Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

摘要: Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and predisposition to malignancies. It results from mutations in one of the 22 known FANC genes. The number Japanese patients with defined genetic diagnosis was relatively limited. In this study, we reveal subtyping characteristics mutated genes Japan clarify genotype-phenotype correlations. We studied 117 successfully subtyped 97% cases. FANCA FANCG pathogenic variants accounted for 58% 25% patients, respectively. identified two hot spot mutations, which are found at low percentages (0.04-0.1%) whole-genome reference panel 3,554 individuals (Tohoku Medical Megabank). FANCB third most common complementation group only FANCC case our series. Based on data Tohoku Megabank, estimate that approximately 2.6% carriers disease-causing gene variants, excluding missense mutations. This largest series date will be useful future clinical management.