PDF(Pubmed)
Abstract：
Mutations in the gene SCAPER (S phase Cyclin A-Associated Protein residing in the Endoplasmic Reticulum) have recently been associated with retinitis pigmentosa (RP) and intellectual disability (ID). In 2011, a possible involvement of SCAPER in human diseases was discovered for the first time due to the identification of a homozygous mutation causing ID in an Iranian family. Later, five studies were published in 2019 that described patients with autosomal recessive syndromic retinitis pigmentosa (arRP) accompanied by ID and attention-deficit/hyperactivity disorder (ADHD). This present study describes three patients from an Arab consanguineous family in Israel with similar clinical features of the SCAPER syndrome. In addition, new manifestations of ocular symptoms, nystagmus, glaucoma, and elevator palsy, were observed. Genetic testing of the patients and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in SCAPER. Phenotypic and genotypic descriptions for all available cases described in the literature including our current three cases (37 cases) were carried out, in addition to a bioinformatics analysis for all the genetic variants that was undertaken. Our study confirms and extends the clinical manifestations of SCAPER-related disorders.
摘要：
基因SCAPER（位于内质网中的S期细胞周期蛋白A相关蛋白）的突变最近与色素性视网膜炎（RP）和智力障碍（ID）有关。2011年，由于鉴定了导致伊朗家庭ID的纯合突变，首次发现SCAPER可能参与人类疾病。稍后，2019年发表的5项研究描述了常染色体隐性综合征性视网膜色素变性(arRP)伴ID和注意力缺陷/多动障碍(ADHD)的患者.本研究描述了以色列一个阿拉伯近亲家庭的三名患者，其SCAPER综合征的临床特征相似。此外,眼部症状的新表现，眼球震颤,青光眼,和电梯麻痹，被观察到。通过全外显子组测序对患者和父母双方进行的基因检测显示SCAPER中的纯合突变c.2023-2A>G。对文献中描述的所有可用病例进行表型和基因型描述，包括我们目前的3例病例（37例），除了对所有遗传变异进行生物信息学分析。我们的研究证实并扩展了SCAPER相关疾病的临床表现。
