FANCONI'S ANEMIA IN CHILDREN: CLINICAL DESCRIPTION AND VARIATION SPECTRUM IN FANCA GENE

Abstract

Nineteen children, of them 11 boys (57,9%) and 8 girls (42,1%) aged from 1,3 to 16 were diagnosed with verified Fanconi`s anemia in the Republic of Belarus in the period from 1992 to 2010. Pathologic skin pigmentation, bone and eye anomalies were the most widespread anomalies in the children`s development. To perform the mutagenic analysis of FANCA gene, DNA from the peripheric blood and marrow mononuclears of 9 patients was extracted. The fragmentary analysis of FANCA gene revealed DNA abnormalities in 2 patients (1-6 exone deletion and 6 exone deletion). The mutation screening of 43 exones of FANCA gene detected mutation in three more patients (exone 19, exone 27, exone 28). Two mutations of 5 detected ones were new. The mutation screening in this group in the combination with FANCA gene mutations in five patients revealed also numerous one-nucleotide polymorphism (SNP), 3 patients revealed only SNP, and one patient had neither mutations nor SNP.