A 5-year-old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.

中文翻译：

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ITSN1 参与常染色体显性神经发育障碍的进一步证据

一名 5 岁受影响男性有以下表型：自闭症、运动定型、发育退化、凝视、失语和行为异常。生化检测正常，基因检测发现先证者ITSN1基因存在新发致病性变异。据我们所知，这是第二份阐明ITSN1基因在常染色体显性神经发育障碍中的作用的报告。