Cerebrovascular diseases in two patients with entire NSD1 deletion

Toshiyuki Itai,Satoko Miyatake,Nobutaka Hattori,Hirotomo Saitsu,Yusuke Aoki,Atsuko Ohno,Harushi Mori,Taku Hatano,Kazuya Itomi,Naomichi Matsumoto

doi:10.1038/s41439-021-00151-z

Abstract

We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.

Highlights

We describe two patients with Nuclear receptor-binding SET domain protein 1 (NSD1) deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs)
NSD1 (MIM 606681) at 5q35 encodes Nuclear receptor-binding SET domain protein 1 (NSD1), which interacts with nuclear receptors and acts as both a coactivator and a corepressor[2,3]
Central nervous system symptoms of macrocephaly, ventriculomegaly, behavioral problems, and seizures have been reported[4], only one patient has been described with cerebrovascular disease (CVD)[5]

Summary

Introduction

We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). More than 450 Sotos syndrome patients with an NSD1 abnormality have been reported in Human Gene Mutation Database Professional (as of 17 February 2021). Their clinical features have been well characterized and include the cardinal features, dysmorphic facial appearance, learning disability, and childhood overgrowth, as Correspondence: Naomichi Matsumoto (naomat@yokohama-cu.ac.jp) 1Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan 2Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan Full list of author information is available at the end of the article well as advanced bone age, cardiac anomalies, renal anomalies, and scoliosis.

Results

Conclusion