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A Rare Case of Osteosarcoma in an Individual with the Recurrent n.64_65insT Variant in the RNU4-2 Gene

Year: 2025

Type: article

Abstract: Background: Variants in the RNU4-2 gene are one of the most common autosomal causes of Neurodevelopmental Disorders (NDD). Despite the increased recognition of their clinical impact, associated malignancies have not been previously reported. Case Findings: We present a male patient with the most common RNU4-2 gene variant, n.64_65insT. At age 21, he was diagnosed with Osteosarcoma (OS), a condition not previously reported in affected individuals, and died 5 months later. Clinical Implication: This unique case expands the phenotype of RNU4-2-related neurodevelopmental disorder and highlights the importance of screening for cancer-related symptoms in patients with RNU4-2 gene variants.

Source: Case Reports in Clinical Medicine

Authors: Hannah Haas, Samuel Strom, Akanchha Kesari, Joshua Lowry, Newell Belnap, Marcus Naymik, Anna Bonfitto, Ali Crawford, Dianne Hernandez, Richard Wang, Michael Pham, Jon Albay, Matthew Huentelman, Vinodh Narayanan, Sampath Rangasamy, Keri Ramsey

Institutions: Translational Genomics Research Institute, Illumina (United States)

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4414215107

FWCI:

Cites: 11

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