背景:Helsmoortel-VanderAa综合征于2014年正式记录。Helsmoortel-VanderAa综合征是一种极其罕见的复杂神经退行性疾病,其特征是智力下降,运动功能障碍,面部畸形,发展受损,自闭症谱系障碍的易感性增加。此外,许多患者还患有神经精神疾病,包括注意力缺陷多动障碍,焦虑症,和各种行为异常。Helsmoortel-VanderAa综合征难以仅根据症状进行识别,和基因调查,包括外显子组测序,有助于诊断。
方法:我们报告了一例13岁的沙特患者,表现为如图1所示的畸形特征。1,严重的智力低下,自闭症谱系障碍,注意力缺陷多动障碍.最初的基因检测并不显著;因此,进行了临床外显子组分析以确定该疾病的遗传基础.
结论:临床外显子组分析表明,常染色体显性遗传的Helsmoortel-VanderAa综合征,在以前未在Helsmoortel-VanderAa综合征中报道的活性依赖性神经保护同源盒(ADNP)基因内具有可能的致病性从头变异。患者右侧孤立肾和多囊卵巢,以前与HVDAS无关的条件。
BACKGROUND: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities. Helsmoortel-Van der Aa syndrome is challenging to identify solely on the basis of symptoms, and genetic investigations, including exome sequencing, may facilitate diagnosis.
METHODS: We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition.
CONCLUSIONS: Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS.