13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Privitera, Flavia; Calonaci, Arianna; Doddato, Gabriella; Papa, Filomena Tiziana; Baldassarri, Margherita; Pinto, Anna Maria; Mari, Francesca; Longo, Ilaria; Caini, Mauro; Galimberti, Daniela; Hadjistilianou, Theodora; Francesco, Sonia De; Renieri, Alessandra; Ariani, Francesca

doi:10.3390/genes12091318

Cited by 4 publications

(3 citation statements)

References 48 publications

(52 reference statements)

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“…Secondly, the 13q deletion syndrome has been linked to retinoblastoma and digit deformities (Comings, 1973 ). Reports indicate that the 13q14 deletion segments vary in size and may be accompanied by diverse systemic abnormalities (Privitera et al., 2021 ). Previous research has demonstrated that hand and foot abnormalities are associated with the loss of chromosome segment 13q32 (Knudson Jr., 1971 ).…”

Section: Discussionmentioning

confidence: 99%

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Pi,

Zhang,

Wang

et al. 2024

Molec Gen & Gen Med

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BackgroundRetinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene. Rb may rarely present with polydactyly.MethodsWe conducted karyotype analysis, copy number variation sequencing, and whole‐genome sequencing on the infant proband and his family. The clinical course and laboratory results of the proband's infant were documented and collected. We also reviewed the relevant literature.ResultsA 68‐day‐old boy presented with preaxial polydactyly and corneal edema. His intraocular pressure (IOP) was 40/19 mmHg, and color Doppler imaging revealed vitreous solid mass‐occupying lesions with calcification in the right eye. Ocular CT showed flaky high‐density and calcification in the right eye. This was classified as an International Retinoblastoma Staging System group E retinoblastoma with an indication for enucleation. Enucleation and orbital implantation were performed on the child's right eye. Karyotype analysis revealed an abnormal 46, XY, 15pstk+ karyotype, and the mother exhibited diploidy of the short arm of chromosome 15. The Alx‐4 development factor, 13q deletion syndrome, and the PAPA2 gene have been reported as potential mechanisms for Rb combined with polydactyly.ConclusionWe report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly.

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Section: Discussionmentioning

confidence: 99%

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Pi,

Zhang,

Wang

et al. 2024

Molec Gen & Gen Med

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“…Any change in chromosome 13q14 could result in mental retardation and Rb. It should be noted that some children with Rb having 13q cytogenetic abnormalities may exhibit some levels of mental retardation despite normal development [41] .…”

Section: Rb Signs and Diagnosismentioning

confidence: 99%

Epidemiological aspect of retinoblastoma in the world: a review of recent advance studies

et al. 2023

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AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma (Rb) in the world. METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Scopus, Web of Science, and PubMed. The search keywords were “retinoblastoma” OR “retinal Neuroblastoma” OR “retinal glioma” OR “retinoblastoma eye cancer” OR “retinal glioblastoma”. RESULTS: The worldwide incidence of Rb is 1 in 16 000-28 000 live births, but was higher in developing compared to developed countries. Several attempts for improving early detection and treatment had increased the Rb survival rate from 5% to 90% in developed countries over the past decade, but its survival was lower in developing countries (about 40% in low-income countries) and the majority of mortalities occurred in developing countries. The etiology of Rb could be viewed as genetics in the heritable form and environmental and lifestyle factors in the sporadic form. Some environmental risk factors such as in vitro fertilization; insect sprays; father’s occupational exposure to oil mists in metal working, and poor living conditions might play a role in the occurrence of the disease. Although ethnicity might affect Rb incidence, sex has no documented effect and the best treatment approaches were now ophthalmic artery chemosurgery and intravitreal chemotherapy. CONCLUSION: Determining the role of genetics and environmental factors helps to accurately predict the prognosis and identify the mechanism of the disease, which can reduce the risk of tumor development.

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“…[ 10 ] Germline or de novo mosaic 13q deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by retinoblastoma, developmental anomalies, and facial dysmorphisms. [ 11 ] Mosaicism results from postzygotic mutation that occurs during early embryonic development and can lead to germline or somatic mosaicism, potentially causing a less severe and/or variable phenotype compared with the equivalent constitutive mutation. [ 12 ]…”

Section: Introductionmentioning

confidence: 99%

GA4GH Phenopackets: A Practical Introduction

et al. 2022

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The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.

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13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Cited by 4 publications

References 48 publications

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Epidemiological aspect of retinoblastoma in the world: a review of recent advance studies

GA4GH Phenopackets: A Practical Introduction

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