Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5-10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate with X-linked intellectual disability (XLID) in multiple families. OGT encodes O-GlcNAc transferase (OGT), an essential enzyme that catalyses O-linked glycosylation with β-N-acetylglucosamine (O-GlcNAc) on serine/threonine residues of thousands of nuclear and cytosolic proteins. In this review, we compile the work from the last few years that clearly delineates a new syndromic form of ID, which we propose to classify as a novel Congenital Disorder of Glycosylation (OGT-CDG). We discuss potential hypotheses for the underpinning molecular mechanism(s) that provide impetus for future research studies geared towards informed interventions.

中文翻译：

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在 O-GlcNAc 转移酶中具有单核苷酸变异的智力障碍综合征。

智力障碍 (ID) 是一种神经发育疾病，影响到世界上约 1% 的人口。总共 5-10% 的 ID 病例是由位于 X 染色体上的基因变异引起的。最近，OGT 的变异已被证明与多个家庭中的 X 连锁智力障碍 (XLID) 共同分离。OGT 编码 O-GlcNAc 转移酶 (OGT)，这是一种必需的酶，可在数千种核蛋白和胞质蛋白的丝氨酸/苏氨酸残基上用 β-N-乙酰葡糖胺 (O-GlcNAc) 催化 O-连接糖基化。在这篇综述中，我们汇集了过去几年的工作，这些工作清楚地描述了一种新的 ID 综合征形式，我们建议将其归类为一种新型先天性糖基化障碍 (OGT-CDG)。