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Article Abstract
Introduction: Neurodevelopmental disorders (NDDs) due to the (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in gene in patients with NDDs with hypotonia, seizures, and absent language.
Case Presentation: In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described. Trio whole exome sequencing revealed a novel likely pathogenic variant in (exon26: c.4354G>A; p. Gly1452Ser) in the patient, while the variant was absent in her parents with Sanger sequencing.
Conclusion: Our objective was to identify the potential site of , combined with the literature review, to find the correlation between clinical phenotype and genotype.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133159 | PMC |
| http://dx.doi.org/10.1159/000545680 | DOI Listing |
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A Novel Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Mol Syndromol
April 2025
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Woman's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Introduction: Neurodevelopmental disorders (NDDs) due to the (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in gene in patients with NDDs with hypotonia, seizures, and absent language.
Case Presentation: In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described.