The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embryonic death and impaired neurogenesis underscore the importance of RBL2 in brain development. Exome sequencing in two siblings with severe intellectual disability, stereotypies and dysmorphic features identified biallelic loss‐of‐function variants c.556C>T, p.(Arg186Ter) and a deletion of exon 13–17 in RBL2 (NM_005611.3), establishing RBL2 as a candidate gene for an autosomal recessive neurodevelopmental disorder.

中文翻译：

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具有神经发育障碍的兄弟姐妹的RBL2中的双等位基因功能丧失变异体。

该RBL2轨迹已与智力，受教育程度，但不与单基因疾病迄今为止有关。RBL2编码视网膜母细胞瘤蛋白家族成员p130，它参与介导神经元的生存和死亡。先前对p130基因敲除小鼠的研究揭示了胚胎死亡和神经发生受损，这突显了RBL2在大脑发育中的重要性。在两个具有严重智力障碍，刻板印象和畸形特征的兄弟姐妹中进行外显子组测序，确定了双等位基因功能丧失变异体c.556C> T，p。（Arg186Ter）和RBL2（NM_005611.3）中外显子13-17的缺失，RBL2作为常染色体隐性神经发育障碍的候选基因。