PDF(Pubmed)
Abstract：
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L variants and previously unreported phenotypic features, including mixed receptive language disorder and gait disturbances. These novel data from the Brain Gene Registry, an accessible repository of clinically derived genotypic and phenotypic data, have allowed for the expansion of the phenotypic and genotypic spectrum of this condition.
摘要：
致病性ASH1L变体已在先证者中报道，具有广泛的表型表现，包括智力残疾，自闭症谱系障碍，注意缺陷多动障碍,癫痫发作,先天性异常,和其他骨骼，肌肉，睡眠差异这里,我们回顾了以前发表的具有致病性ASH1L变异体的个体，并报告了另外三个具有新ASH1L变异体和以前未报告的表型特征的先证者。包括混合接受性语言障碍和步态障碍。这些来自大脑基因注册的新数据，一个可访问的临床衍生基因型和表型数据储存库，已经允许扩展这种情况的表型和基因型谱。
