Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Takayuki Yokoi,Takuya Naruto,Yumi Enomoto,Kenji Kurosawa,Norimichi Higurashi

doi:10.1038/s41439-020-0102-6

Abstract

Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.

Highlights

Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features
Somatic mutations of DNMT3A were identified in acute myeloid leukemia
Correspondence: Takayuki Yokoi 1Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan 2Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan Full list of author information is available at the end of the article a case of Tatton-Brown-Rahman syndrome (TBRS) with a novel mutation and severe intellectual disability (ID) and autism spectrum disorder (ASD)

Summary

Introduction

Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. Tatton-Brown-Rahman syndrome (TBRS) was clinically reported together with the responsible gene DNMT3A in 2014 and is a relatively new overgrowth congenital anomaly syndrome[1]. Patients with TBRS have macrocephaly, dysmorphic facial features and intellectual disability (ID) with or without autism spectrum disorder (ASD). Various mutations have been found at various sites in previous reports of TBRS.

Results

Conclusion