Akademik Veri Yönetim Sistemi
https://2023.eshg.org/, Glasgow, İngiltere, 10 - 13 Haziran 2023, cilt.31, ss.443
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.