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由一种新型变异导致的先天性多发性关节挛缩症合并多小脑回畸形和婴儿脑病。

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel variant.

作者信息

Nishimura Naoto, Kumaki Tatsuro, Murakami Hiroaki, Enomoto Yumi, Katsumata Kaoru, Toyoshima Katsuaki, Kurosawa Kenji

机构信息

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.

出版信息

Hum Genome Var. 2020 Sep 25;7:29. doi: 10.1038/s41439-020-00116-8. eCollection 2020.

DOI:10.1038/s41439-020-00116-8
PMID:33062288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7519642/
Abstract

Variants of , 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 , which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of -related neurodevelopmental disorders.

摘要

编码GluN1的基因的变体与发育迟缓、癫痫和皮质畸形有关。在此，我们报告一例由杂合变体c.1949A>C，p.(Asn650Thr)的该基因引起的先天性多发性关节挛缩症伴多小脑回和婴儿脑病，该变体可能导致GluN1的第三个跨膜结构域（M3）的破坏。该病例扩展了我们对与该基因相关的神经发育障碍已知表型的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/890a/7519642/61bba50343c2/41439_2020_116_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/890a/7519642/e8f48427dba5/41439_2020_116_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/890a/7519642/61bba50343c2/41439_2020_116_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/890a/7519642/e8f48427dba5/41439_2020_116_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/890a/7519642/61bba50343c2/41439_2020_116_Fig2_HTML.jpg

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