Siegert Sandy, Schmidt Wolfgang M, Pletschko Thomas, Bittner Reginald E, Gobara Sonja, Freilinger Michael
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
Neuromuscular Research Department, Medical University of Vienna, Austria.
Neuropediatrics. 2021 Oct;52(5):377-382. doi: 10.1055/s-0040-1722686. Epub 2021 Jan 28.
Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel gene variant in a pediatric patient and two affected relatives.
Whole exome sequencing was applied after a thorough clinical and neurological examination of the index patient and her family members. Results of neuropsychological testing were analyzed.
Whole exome sequencing revealed a novel homozygous missense variant in the gene [c.182C>T p.(Ala61Val)] in our pediatric patient and the two affected family members. Clinically, the cases presented with dystonia, dysarthria, and jerky movements. We observed a particular cognitive profile with executive dysfunctions in our patient, which corresponds to the cognitive deficits that have been observed in the patients previously described.
We present a novel genetic variant of the gene associated with autosomal recessive dystonia in a child with childhood-onset dystonia supporting its clinical features. Furthermore, we propose specific -related cognitive changes in homozygous carriers, underlining the importance of undertaking a systematic assessment of cognition in -related dystonia.
近期研究提示一种与海马钙结合蛋白（HPCA）相关的类DYT2型常染色体隐性肌张力障碍。两项报告强调了该临床表型的广泛谱系。在此，我们描述了一名儿科患者及两名患病亲属中的一种新的基因变异。
对索引患者及其家庭成员进行全面的临床和神经学检查后，应用全外显子组测序。分析神经心理学测试结果。
全外显子组测序在我们的儿科患者及两名患病家庭成员中发现了该基因的一种新的纯合错义变异[c.182C>T p.(Ala61Val)]。临床上，这些病例表现为肌张力障碍、构音障碍和抽搐运动。我们在患者中观察到一种具有执行功能障碍的特殊认知概况，这与先前描述的患者中观察到的认知缺陷相符。
我们在一名患有儿童期起病肌张力障碍的儿童中呈现了与常染色体隐性肌张力障碍相关的该基因的一种新的基因变异，支持其临床特征。此外，我们提出了纯合携带者中与该基因相关的特定认知变化，强调了在与该基因相关的肌张力障碍中对认知进行系统评估的重要性。
