ArticleFrontiers in neuroscience2025
Clinical and genetic characteristics associated with dual-positive gene variations.
Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To analyze the clinical and genetic characteristics associated with dual-positive gene variations. Methods: A retrospective analysis was conducted on two children diagnosed with dual-positive gene variations. Results: Patient 1, a 7-year-old girl, presented with a low hairline, microcephaly, high-arched eyebrows, thick eyebrows, a short nasal bridge, a thin and red upper lip, and a high palatal arch. She exhibited delayed language and motor development. Genetic analysis revealed a Conclusion: We identified a rare case of a child with Cornelia de Lange Syndrome type 3 (CDLS3), accompanied by severe cognitive impairment, attributed to variations in the SMC3 and MECP2 genes. The MECP2 gene variation, while not resulting in Rett syndrome, may exacerbate the cognitive impairment. Additionally, we observed a rare instance of CDLS3 co-occurring with Charcot-Marie-Tooth disease type 1A. In situations where a single gene cannot be accounted for the clinical phenotype, it is imperative to consider the potential involvement of additional genetic variations.
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