Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

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

doi:10.1038/s41439-020-00116-8

Abstract

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.

Highlights

Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation
Correspondence: Kenji Kurosawa 1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan 2Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan Full list of author information is available at the end of the article is known about the clinical phenotypes associated with GRIN1 variant-related disruption of neuronal development, and expanding the list of known phenotypes is essential for accurate diagnosis and selection of appropriate treatment/management options
We report the case of a newborn with arthrogryposis multiplex congenita (AMC), polymicrogyria, and infantile-onset epilepsy caused by a novel GRIN1 variant

Summary

Introduction

Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Correspondence: Kenji Kurosawa (kkurosawa@kcmc.jp) 1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan 2Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan Full list of author information is available at the end of the article is known about the clinical phenotypes associated with GRIN1 variant-related disruption of neuronal development, and expanding the list of known phenotypes is essential for accurate diagnosis and selection of appropriate treatment/management options. We report the case of a newborn with AMC, polymicrogyria, and infantile-onset epilepsy caused by a novel GRIN1 variant.

Results

Conclusion