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A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2021-03-18 , DOI: 10.1002/ajmg.a.62184
Yoav Baruch 1 , Shirley Horn-Saban 2 , Yoram Plotsky 2 , Dani Bercovich 2, 3 , Ruth Gershoni-Baruch 2
Affiliation  

Ververi‐Brady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss‐of‐function variants in the glutamine‐rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cases have just been described substantiating the notion that children with VBS are mildly dysmorphic, mildly to moderately intellectually disabled, have linear growth shortage, are picky eaters, and have notable attention and social behavioral deficits. We describe a new patient and review the clinical and genetic information, on all previously reported VBS cases. The child here reported is noted for maladaptive behavior, sensory hypersensitivity, and slow linear growth. He is mainly hyperactive, distractible, impulsive, and inattentive. His speech, initially delayed, is fair and his verbal comprehension age adequate.

中文翻译:

QRICH1功能丧失导致Ververi-Brady综合征1例及文献复习

Ververi-Brady 综合征 (VBS) 于 2018 年首次报道,其特征是智力障碍、语言延迟和轻度畸形面部特征。VBS 与富含谷氨酰胺的蛋白质 1 ( QRICH1) 在染色体 3p21 上,直到最近才报道了五个个体。刚刚描述的另外四个案例证实了 VBS 儿童轻度畸形、轻度至中度智力障碍、线性生长不足、挑食、注意力和社交行为缺陷明显的概念。我们描述了一名新患者并审查了所有先前报告的 VBS 病例的临床和遗传信息。此处报告的儿童因适应不良行为、感觉过敏和缓慢的线性生长而著称。他主要是多动、易分心、冲动和注意力不集中。他的讲话最初被推迟,但很公平,而且他的语言理解年龄也足够了。
更新日期:2021-05-14
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