News Releases & Research Results Identification of causative gene for new congenital malformation syndrome: mutations of transcriptional regulatory factor MN1 in the disease

News Releases & Research Results


The results of the collaborative study led by Associate Professor Noriko Miyake and Professor Naomichi Matsumoto of the Department of Human Genetics, Yokohama City University Graduate School of Medicine.

The key results of study are as follows

  • The study analyzed gene mutations by whole-exome sequencing (*) in three patients who presented with delays in mental and motor development, language impairment, craniofacial abnormalities with specific facial features, bulimia, and structural abnormalities in the brain.
     * A method to determine base sequences using a next-generation sequencer after comprehensively differentiating the exon regions in the genome (regions in the genome where genes determine protein sequencing).
  • The results of the analysis revealed that a gain-of-function mutation (mutation in which overexpression of gene products occurs) in MN1, one of the transcriptional regulatory factors, causes new congenital malformation syndrome characterized by central nervous system abnormalities and craniofacial abnormalities with specific facial features.
  •  The results are expected to identify the pathobiology of congenital malformation syndrome, and lead to the development of diagnosis and treatment.

This project was conducted with the support of Practical Research Project for Rare / Intractable Diseases by AMED.

The results of study were published in American Journal of Human Genetics, an American scientific journal, on December 13.


Miyake N., et al. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities The American Journal of Human Genetics



Last updated 12/13/19