Intellectual disability (ID) is a complicated and multifactorial condition often with an unclear cause. Advancements in diagnostic techniques have identified genetic causes in a significant proportion. Pathogenic variants in TRIP12 , encoding for an E3 ligand in the ubiquitin‐protease pathway, have previously been identified as a cause of ID with autistic behavior and dysmorphic features. We report two unrelated patients with de novo mutations in TRIP12 and diagnoses of global developmental delay, autism spectrum disorder and dysmorphic features, as well as a range of other characteristics. Exome sequencing was utilized as part of an extensive genetic workup for both individuals. The genotypic and phenotypic data for both patients has been collated with previously reported data. Epilepsy was noted in about 20% published cases. One of our patents had epilepsy. These cases highlight the variable phenotypic presentations of TRIP12 variations while emphasizing the core features of ID and speech delay, with or without autistic features and epilepsy.

中文翻译：

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新的从头TRIP12突变揭示了可变的表型表现，同时强调了TRIP12变异的核心特征。

智力障碍（ID）是一种复杂的多因素疾病，原因通常不清楚。诊断技术的进步已在很大程度上确定了遗传原因。TRIP12中的致病性变体在泛素蛋白酶途径中编码E3配体，先前已被鉴定为具有自闭行为和畸形特征的ID病因。我们报告了两名不相关的患者，他们在TRIP12中有从头突变并诊断全球发育迟缓，自闭症谱系障碍和畸形特征以及其他一系列特征。外显子组测序被用作对两个人进行广泛遗传检查的一部分。两名患者的基因型和表型数据已与先前报道的数据进行核对。在大约20％的已发表病例中注意到癫痫病。我们的一项专利是癫痫病。这些案例强调了TRIP12变异的可变表型表现，同时强调了ID和语音延迟的核心特征，带有或不带有自闭症特征和癫痫病。