PDF(Pubmed)
Abstract：
BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospective study aims to investigate the clinical and genetic characteristics of Chinese patients with PTHS.
METHODS: The clinical, biochemical, genetic, therapeutic, and follow-up data of 47 pediatric patients diagnosed with PTHS between 2018 and 2021 were retrospectively analyzed.
RESULTS: The Chinese PTHS patients presented with specific facial features and exhibited global developmental delay of wide severity range. The locus heterogeneity of the TCF4 gene in the patients was highlighted, emphasizing the significance of genetic studies for accurate diagnosis, albeit no significant correlations between genotype and phenotype were observed in this cohort. The study also reports the outcomes of patients who underwent therapeutic interventions, such as ketogenic diets and biomedical interventions.
CONCLUSIONS: The findings of this retrospective analysis expand the phenotypic and molecular spectra of PTHS patients. The study underscores the need for a long-term prospective follow-up study to assess potential therapeutic interventions.
METHODS: The clinical, biochemical, genetic, therapeutic, and follow-up data of 47 pediatric patients diagnosed with PTHS between 2018 and 2021 were retrospectively analyzed.
RESULTS: The Chinese PTHS patients presented with specific facial features and exhibited global developmental delay of wide severity range. The locus heterogeneity of the TCF4 gene in the patients was highlighted, emphasizing the significance of genetic studies for accurate diagnosis, albeit no significant correlations between genotype and phenotype were observed in this cohort. The study also reports the outcomes of patients who underwent therapeutic interventions, such as ketogenic diets and biomedical interventions.
CONCLUSIONS: The findings of this retrospective analysis expand the phenotypic and molecular spectra of PTHS patients. The study underscores the need for a long-term prospective follow-up study to assess potential therapeutic interventions.
摘要：
背景：皮特-霍普金斯综合征（PTHS）是一种仍未被诊断的神经发育障碍，其在不同人群中的临床表现和突变特征尚待评估。这项回顾性研究旨在探讨中国PTHS患者的临床和遗传特征。
方法：临床，生物化学，遗传,治疗性的,回顾性分析2018年至2021年诊断为PTHS的47例儿科患者的随访资料.
结果：中国PTHS患者表现出特定的面部特征，并表现出严重程度范围广泛的整体发育迟缓。患者中TCF4基因的位点异质性被强调，强调基因研究对准确诊断的重要性，尽管在该队列中没有观察到基因型和表型之间的显著相关性。该研究还报告了接受治疗干预的患者的预后，例如生酮饮食和生物医学干预。
结论：这项回顾性分析的结果扩展了PTHS患者的表型和分子谱。该研究强调需要进行长期的前瞻性随访研究，以评估潜在的治疗干预措施。
方法：临床，生物化学，遗传,治疗性的,回顾性分析2018年至2021年诊断为PTHS的47例儿科患者的随访资料.
结果：中国PTHS患者表现出特定的面部特征，并表现出严重程度范围广泛的整体发育迟缓。患者中TCF4基因的位点异质性被强调，强调基因研究对准确诊断的重要性，尽管在该队列中没有观察到基因型和表型之间的显著相关性。该研究还报告了接受治疗干预的患者的预后，例如生酮饮食和生物医学干预。
结论：这项回顾性分析的结果扩展了PTHS患者的表型和分子谱。该研究强调需要进行长期的前瞻性随访研究，以评估潜在的治疗干预措施。
