Publication in Familial Cancer journal
Familial Cancer (IF 2.2, Q3) published an article by the FSBI RCMG Functional Genomics researchers (the Lab Head is M.Yu. Skoblov, Candidate of biological science):
Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family
Viakhireva I, Musatova E, Bessonova L, Shcherbatyuk Y, Korobkov S, Zhikriveckaya S, Sofronova Y, Mironova I, Khmelkova D, Konovalov F, Baranova A, Pomerantseva E, Skoblov M.
Fanconi anemia is a hereditary disease caused by mutations in the genes of DNA repair system. Clinical manifestations may vary in different patients depending on which gene is damaged. A change in hematological parameters is likely, any phenotypic manifestations (abnormalities of the limbs and internal organs) are possible; patients often experience complications in the form of malignant tumors.
The FSBI RCMG Functional Genomics Laboratory helped a family with a child with Fanconi anemia to make a molecular diagnosis. DNA diagnostics failed to identify the cause of the disease, therefore, a new approach to diagnosis was used - RNA analysis. The study revealed a deletion in the 10th intron of the gene, which led to the skipping of 11 exon in mature mRNA.
The family was able to give birth to a healthy baby owing to the preimplantation genetic analysis made in Genetico laboratory. The article presents the results obtained during the joint work of two laboratories.
Fam Cancer. 2020 Feb 12. doi: 10.1007/s10689-020-00165-6