A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
| العنوان: | A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report |
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| المؤلفون: | Naoko Fujita, Keizo Horibe, Takema Kato, Hiroyoshi Hattori, Maki Kato, Rie Kawamura, Fumihiko Suzuki, Nobuhiro Akita, Makiko Tsutsumi, Naoko Maeda, Hiroki Kurahashi, Miki Kawai, Toshinobu Kubota, Yasuko Shinkai |
| المصدر: | BMC Medical Genomics BMC Medical Genomics, Vol 12, Iss 1, Pp 1-8 (2019) |
| بيانات النشر: | BioMed Central, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, lcsh:Internal medicine, lcsh:QH426-470, Retinal Neoplasms, Ubiquitin-Protein Ligases, Bisulfite sequencing, Chromosomal translocation, Case Report, 030105 genetics & heredity, Biology, X-inactivation, Translocation, Genetic, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Balanced X-A translocation, Humans, lcsh:RC31-1245, Genetics (clinical), X chromosome, Chromosomes, Human, X, Chromosomes, Human, Pair 13, Retinoblastoma, Chromosome, Infant, Karyotype, medicine.disease, Molecular biology, Xq28, lcsh:Genetics, Retinoblastoma Binding Proteins, 030104 developmental biology, Female |
| الوصف: | BackgroundFemale carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the derivative translocation chromosome would compromise cellular function. We here report a female patient with bilateral retinoblastoma and a severe intellectual disability who carries a reciprocal X-autosomal translocation.Case presentationCytogenetic and molecular analyses, a HUMARA (Human androgen receptor) assay, and methylation specific PCR (MSP) and bisulfite sequencing were performed using peripheral blood samples from the patient. The patient’s karyotype was 46,X,t(X;13)(q28;q14.1) by G-banding analysis. Further cytogenetic analysis located the entireRB1gene and its regulatory region on der(X) with no translocation disruption. The X-inactivation pattern in the peripheral blood was highly skewed but not completely selected. MSP and deep sequencing of bisulfite-treated DNA revealed that an extensive 13q region, including theRB1promoter, was unusually methylated in a subset of cells.ConclusionsThe der(X) region harboring theRB1gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma. In addition, the patient’s intellectual disability may be attributable to the inactivation of the der(X), leading to a 13q deletion syndrome-like phenotype, or to an active X-linked gene on der (13) leading to Xq28 functional disomy. |
| اللغة: | English |
| تدمد: | 1755-8794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5faa6f773fe22a5e2e7f5ed49e8303f1Test http://europepmc.org/articles/PMC6896736Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5faa6f773fe22a5e2e7f5ed49e8303f1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17558794 |
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