Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1, which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders.

中文翻译：

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由新的GRIN1变体引起的多发性小关节和多发性脑病的多关节型先天性

编码GluN1的GRIN1变体与发育延迟，癫痫和皮质畸形有关。在这里，我们报告一例多发性先天性多角膜关节炎和婴儿脑病，这是由GRIN1的杂合变异体c.1949A> C，p。（Asn650Thr）引起的，这可能导致GRIN1的第三跨膜结构域（M3）破坏GluN1。这种情况扩大了我们对GRIN1相关的神经发育障碍的已知表型的理解。