1. Репозитарій НУОЗ України імені П. Л. Шупика
  2. Український державний інститут репродуктології
  3. Кафедра медичної та лабораторної генетики
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dc.contributor.authorШейко, Лариса-
dc.contributor.authorЛастівка, Ірина-
dc.contributor.authorАнцупова, Віта-
dc.contributor.authorБрішевац, Людмила-
dc.contributor.authorХлуновська, Людмила-
dc.contributor.authorБабінцева, Анастасія-
dc.contributor.authorМалєєва, Ірина-
dc.contributor.authorУшко, Яна-
dc.contributor.authorГодованець, Олексій-
dc.contributor.authorШаровалов, Олексій-
dc.contributor.authorПолодієнко, Ольга-
dc.contributor.authorДавидюк, Володимир-
dc.date.accessioned2023-11-17T13:30:16Z-
dc.date.available2023-11-17T13:30:16Z-
dc.date.issued2023-
dc.identifier.citationhttps://doi.org/10.1038/s41431-023-01339-3uk_UK
dc.identifier.issnhttps://doi.org/10.1038/s41431-023-01339-3-
dc.identifier.urihttp://lib.inmeds.com.ua:8080/jspui/handle/lib/4730-
dc.descriptionTargeted high-throughput sequencing, Sanger sequencing. Results: The 4-year-old boy with symptomatic epilepsy, frequent polymorphic seizures that fi rst appeared at the 16th week of life. The child from the second pregnancy proceeded against the background of termination of pregnancy in the 1st trimester. Objectively: the skin of the proband ’ s buttocks and torso has mul- tiple dense white matte and depigmented spots that were present from birth. MRI of the brain: cortical and subcortical focal changes in the brain is characteristic of Tuberous sclerosis. The family history of mother and father is aggravated by oncopathology. High- throughput targeted sequencing of clinically important genes has been recommended. The proband was found to have a de novo mutation of the TSC2 gene c.1869del(p.Asp624Thrfs*74). The diag- nosis «Tuberous sclerosis» was con fi rmed. In addition, the patient and his mother were found to be carriers of the pathological mutation of the SGSH c.220C>T(p.Arg74Cys) gene responsible for the development of type IIIa mucopolysaccharidosis. Conclusion: Using modern sequencing methods, a mutant gene was identi fi ed in the patient. In the proband and his mother, a pathological mutation of the SGSH gene was found in the het- erozygous state. The information obtained is important for the prognosis of the child ’ s life and for medical genetic counseling of the family.uk_UK
dc.description.abstractTuberous sclerosis refers to phakoma- toses, determined by mutations in the TSC1 and TSC2 genes. Mutations in the TSC1 gene are clinically manifested by a milder course, with TSC2 mutations, the symptoms are more severe and not amenable to therapy. Identi fi cation of the mutation in a patient is important.uk_UK
dc.language.isoenuk_UK
dc.publisherEuropean Journal of Human Genetics​uk_UK
dc.relation.ispartofseriesVol.31, Iss.5, suppl.1;Р.196-
dc.subjectTuberous sclerosisuk_UK
dc.subjectmutations in the TSC1 genesuk_UK
dc.subjectTargeted high-throughput sequencinguk_UK
dc.subjectmutations in the TSC2 genesuk_UK
dc.titleThe advantage of high throughput sequencing in the diagnosis of tuberous sclerosis. Clinical caseuk_UK
dc.typeOtheruk_UK
Розташовується у зібраннях:Кафедра медичної та лабораторної генетики

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