Lan Zeng, Jing Nie, Shuyao Zhu, Jin Wang, Yi Deng, Hui Zhu, Xueyan Wang, Na Xi
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A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Introduction: Neurodevelopmental disorders (NDDs) due to the HECW2 (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in HECW2 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 HECW2 (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 HECW2, combined with the literature review, to find the correlation between clinical phenotype and genotype.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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