Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Eri Takeshita; Aritoshi Iida; Chihiro Abe-Hatano; Eiji Nakagawa; Masayuki Sasaki; Ken Inoue; Yu-Ichi Goto

doi:10.1038/s41439-019-0078-2

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Hum Genome Var. 2019 Oct 18:6:48. doi: 10.1038/s41439-019-0078-2. eCollection 2019.

Authors

Eri Takeshita^#¹, Aritoshi Iida^#², Chihiro Abe-Hatano³, Eiji Nakagawa¹, Masayuki Sasaki¹, Ken Inoue³, Yu-Ichi Goto^{3

4}

Affiliations

¹ 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8551 Japan.
² 2Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Kodaira, Tokyo, 187-8551 Japan.
³ 3Department of Mental Retardation and Birth Defect Research, National Institute of Neurology, NCNP, Kodaira, Tokyo, 187-8551 Japan.
⁴ 4Medical Genome Center, NCNP, Kodaira, Tokyo, 187-8551 Japan.

^# Contributed equally.

Abstract

Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.

Keywords: DNA sequencing; Genetics research.