Exome Sequencing of the Family with Diamond-Blackfan Anemia

This project is a case study of the family N. of four members: father (II-1), mother (II-2), eldest son (III-1) and younger son (III-2). Sons have been diagnosed with Diamond-Blackfan anemia. Molecular analysis conducted at Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology and Immunology revealed that the sons and the father have splice-site mutation in RPS7 gene: c.-19+1(G>T). However father didn't have any symptoms of anemia throughout his life. Exome sequencing of all four family members was conducted to identify genetic predisposition to different Diamond-Blackfan anemia phenotypes in this family.