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首页> 外文期刊>American journal of medical genetics, Part A >Expanding the phenotype of intellectual disability caused by HIVEP2 HIVEP2 variants
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Expanding the phenotype of intellectual disability caused by HIVEP2 HIVEP2 variants

机译：扩大Hivep2 Hivep2变体引起的智力残疾表型

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Abstract De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 ( HIVEP2 ) gene, a large transcription factor predominantly expressed in the brain have previously been associated with intellectual disability (ID) and dysmorphic features in nine patients. We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman‐like features. Exome sequencing was utilized in the investigation of the patients who had previously incurred a rigorous genetic workup for their neurodevelopmental delay, and in whom no genetic cause had been detected. Information pertaining to phenotype and genotype for new patients was collated along with data from previous reports, showing that the phenotypic spectrum of patients with HIVEP2 variants is broader than first noted. Additional characteristics are: an increased body mass index; and features of Angelman‐like syndromes including: ID, limited speech, post‐natal microcephaly, and hypotonia. Dysmorphic features vary between patients. As yet, no clear association between the type of gene aberration and phenotype can be concluded. HIVEP2 ‐related ID needs to be considered in the differential diagnosis of patients with Angelman‐like phenotypes and hyperphagia, and whole‐exome sequencing should be considered in the genetic diagnostic armamentarium for patients with ID of inconclusive etiology.
机译：摘要在人免疫缺陷病毒增强子类型I结合蛋白2（Hivep2）基因中的De Novo致病变体，主要在大脑中表达的大转录因子先前已与九个患者的智力残疾（ID）和疑似特征有关。我们描述了另外两种患者的表型和基因型，具有以前未报告的特征，包括多双耳和偶尔守人的特征。 exome测序用于调查以前对其神经发育延迟进行严格的遗传次劳工程的患者进行调查，并且没有检测到遗传原因。与新患者的表型和基因型有关的信息以及来自先前报告的数据，表明Hivep2变体患者的表型谱比首先指出更广泛。额外特征是：体重指数增加;和偶体综合征的特征，包括：ID，语音，产后术后微微症和低呼吸道。患者之间的疑难思想特征各不相同。目前，可以结束基因畸变和表型类型之间的明确关联。 Hivep2 -Reled ID需要考虑在患者样表型和过度型患者的患者的鉴别诊断中，并且在遗传诊断尸体患者中应考虑整个exome测序，用于患有不确定病因的患者。

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