Mutation spectrum of Fanconi anemia associated genes in five patients from Azerbaijan


Aghayev A., Hüseyinov V., Toksoy G., Hasanova S., Mammadova G., Uyguner Z. O.

https://2023.eshg.org/, Glasgow, England, 10 - 13 June 2023, vol.31, pp.443

  • Publication Type: Conference Paper / Summary Text
  • Volume: 31
  • City: Glasgow
  • Country: England
  • Page Numbers: pp.443
  • Istanbul University Affiliated: Yes

Abstract

Background/Objectives: Fanconi anemia (FA) is a rare genetic disorder caused mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. FA proteins are required for the proper repair of DNA interstrand crosslinks (ICL), a deleterious type of DNA damage that covalently binds DNA strands. FA is characterized by congenital malformations, bone marrow failure, and predisposition to malignancies. Presently, 22 autosomal and one X linked genes are held responsible from >85% of the disease and the FANCA mutations accounts for almost 60%-70%. Methods: 5 patients, with FA clinic are included into this investigation. We performed exome sequencing and copy number variant analyses and detected variants considered to be pathogenic are verified by Sanger. Mutation un-identified patients and patients carrying heterozygous pathogenic variants are further tested by MLPA. Results: Three known variants in four alleles (c.[2679G>A];[2679G>A], c.[1343A>G];[2495_2497delTCT], and two novel variants in four alleles (c.[495delC];[495delC], c.[2941T>C];[2941T>C] in FANCA, and a novel variant in two alleles (c.[283_284delCT];[283_284delCT]) in FANCF are identified. Conclusion: This is the first study looking at clinical and genetic features of FA in Azerbaijan. We aimed to identify the mutation frequencies of FA genes, outcome, overall condition, and genetic features of patients in Azerbaijan to optimize management, identify the most common genes, describe new mutations, and offer prenatal diagnosis and counseling to the affected families. References: Toksoy, Güven, et al. “Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.” Molecular syndromology 11.4 (2020):183-196. Grants:. Conflict of Interest: None declared.