Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.

中文翻译：

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与新型钙调蛋白结合转录激活因子 1 序列变体相关的肌阵挛肌张力障碍表型

钙调蛋白结合转录激活因子 1 基因 ( CAMTA1 ) 的基因内重排和序列变异可导致一系列临床表现，最明显的是伴有或不伴有智力障碍的先天性共济失调。我们首次描述了与新型CAMTA1序列变体相关的以肌阵挛性肌张力障碍为主的表型。此外，通过在具有更典型神经发育疾病表现的个体中鉴定出额外的、复发性CAMTA1序列变异，我们有助于阐明与CAMTA1基因突变相关的表型变异性。