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0225U004878,
(0121U110054)
,
Molecular-genetic mechanisms of human disorders of sexual development
Аналіз мутацій в ДНК-звязуючому домені гена АR у пацієнтів з синдромом нечутливості до андрогенів. Аналіз патогеннсті виявлених мутацій з використанням біоінформаційних методів та моделювання просторової структури мутантних білків.
Livshyts Liudmyla A., д.б.н.
22-12-2025
Institute of Molecular Biology and Genetics of NAS of Ukraine
Identify pathogenic mutations in determinant genes, disorders of which lead to diseases associated with impaired development of sex differentiation. Identify new candidate genes in which mutations are associated with impaired sex differentiation. Develop new effective information tools for the analysis of full-genome sequencing data to effectively assess the pathogenicity of identified genetic variants as a basis for genetic diagnosis and personalized therapy.
Results. During the study, the nature and origin of new genetic variants (mutations) in known determinant genes leading to impaired development and differentiation of the genital organs were determined. According to the plan, a clinical and genealogical analysis was conducted among patients with impaired development and differentiation of sex from different regions of Ukraine, included in the study according to informed consent. Peripheral blood samples were obtained from patients and their family members (parents and, if available, other relatives) and genomic DNA preparations and, if necessary, mRNA were isolated and purified with subsequent cDNA synthesis. Subsequently, molecular cytogenetic analysis of patients was performed. In patients without chromosomal aberrations and mutations in genes included in the specific panel of genetic factors of disorders of sex development (AR, SRY, NR5A1, DMRT1) as well as in the parents of patients, whole-exome sequencing was performed. Validation of annotated mutant variants detected by whole-exome sequencing was performed by Sanger sequencing. For the first time, it was identified that the genes encoding the partner proteins STARD9 and CDK5RAP2, in which mutant variants were detected in a patient with a karyotype of 46XY, SRY+ and a diagnosis of complete gonadal dysgenesis, were proposed as new genetic factors for oligogenic sex development disorders and should be included in a specialized diagnostic panel of genes.
Gorodna Oleksandra V.
Kryl Nataliya M.
Maryna V. Nechyporenko
Hanna B. Livshyts
Sirokha Dmytro А.
Andrii V. Dzobak
2025-12-22
Updated: 2025-12-22
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