Which genetic syndrome is linked to chromosomal breakage due to the NBN gene?

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Nijmegen Breakage Syndrome is indeed associated with mutations in the NBN gene, which plays a critical role in DNA repair mechanisms. This syndrome is characterized by a predisposition to cancer, immunodeficiency, and distinctive physical features such as microcephaly and growth retardation. The NBN gene is involved in the formation of the MRN complex, which is essential for sensing DNA damage, facilitating repair, and maintaining genomic stability. Defects in this gene lead to an increased risk of chromosomal breakage and fragility, which are hallmark features of Nijmegen Breakage Syndrome.

Other syndromes listed, while they may involve genetic mutations and developmental concerns, do not directly involve the NBN gene. Coffin-Lowry Syndrome is linked to the RPS6KA3 gene, Werner Syndrome is associated with the WRN gene, and Aarskog Syndrome results from mutations in the FGD1 gene. Thus, the clear connection between the NBN gene and Nijmegen Breakage Syndrome makes it the correct choice in this context.

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