Alomaim Mohammad M, Mushiba Aziza M
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
General Pediatrics, King Fahad Medical City, Riyadh, SAU.
Cureus. 2023 Jan 12;15(1):e33682. doi: 10.7759/cureus.33682. eCollection 2023 Jan.
DExH-Box Helicase 30 (DHX30) is a gene that codes for proteins. It belongs to the class of RNA secondary structure unwinding helicases known as DExH-boxes. There have been numerous reports of pathogenic DHX30 variants. Most mutations, but not all, result in severe phenotypic abnormalities. The most common symptoms are severe motor developmental delay, intellectual disability, sleep disturbances, autism spectrum disorder, seizures, and gait abnormalities.
The objectives of reporting this case are: To report a novel mutation giving rise to NEDMIAL and to update the literature regarding the manifestation of the case of a rare condition (NEDMIAL).
We report the case of a 12-year-old female who presented with similar complaints of severe motor impairment, seizures, intellectual disability, and absent language and was later diagnosed on Next-Generation Sequencing (NGS) with an autosomal dominant neurodevelopmental disorder (NEDMIAL).
We report a case of neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) with a De novo novel DHX30 mutation (p.Pro796Leu) detected by whole exome sequence. We suggest upgrading the variant classification of DHX30:p.Pro796Leu to likely pathogenic, according to the evidence found in our patient. To the best of our knowledge, this is the first reported case of this mutation and disorder in the Middle East.
DExH盒解旋酶30（DHX30）是一种编码蛋白质的基因。它属于被称为DExH盒的RNA二级结构解旋酶类别。已有众多关于致病性DHX30变异体的报道。大多数突变（但并非全部）会导致严重的表型异常。最常见的症状是严重的运动发育迟缓、智力残疾、睡眠障碍、自闭症谱系障碍、癫痫发作和步态异常。
报告该病例的目的是：报告一种导致NEDMIAL的新型突变，并更新关于一种罕见病症（NEDMIAL）病例表现的文献。
我们报告了一名12岁女性的病例，她出现了严重运动障碍、癫痫发作、智力残疾和语言缺失等类似症状，后来通过下一代测序（NGS）被诊断为常染色体显性神经发育障碍（NEDMIAL）。
我们报告了一例患有严重运动障碍和语言缺失（NEDMIAL）的神经发育障碍病例，通过全外显子测序检测到一种新发的新型DHX30突变（p.Pro796Leu）。根据我们在患者中发现的证据，我们建议将DHX30:p.Pro796Leu的变异分类升级为可能致病。据我们所知，这是中东地区首例报道的这种突变和病症的病例。
