News Releases & Research Results Discovery of novel genes responsible for developmental disorders with trigonocephaly - New findings leading to the elucidation of the onset mechanism of developmental disorders -

The results of collaborative research conducted by Professor Kazuhiro Yamakawa of the Department of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medicine, Professor Naomichi Matsumoto of the Department of Human Genetics, Yokohama City University Graduate School of Medicine, Dr. Takeyoshi Shimoji of the Department of Neurosurgery, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center, Team Leader Takeo Yoshikawa of the Laboratory for Molecular Psychiatry, RIKEN Center for Brain Science, Professor Norio Ozaki of the Development of Psychiatry and Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine, Professor Masanobu Kano of the Department of Neurophysiology, Graduate School of Medicine, The University of Tokyo, Professor Shinichi Hirose of the Central Research Institute for the Molecular Pathomechanisms of Epilepsy (Department of Pediatrics), Fukuoka University, Dr. Sunao Kaneko of North Tohoku Epilepsy Center, Minato Hospital, and Dr. Yushi Inoue of Shizuoka Institute of Epilepsy and Neurological Disorders.

• Many novel mutations have been identified in genes responsible for developmental disorders by analyzing genomic DNA from patients with developmental disorders and disease model mice. Additionally, the model mice were demonstrated to reproduce symptoms associated with developmental disorders and epilepsy.
• Specifically, 62 novel mutations (detected in patients but not in their parents) were identified in 57 genes by whole-exome analysis of 95 patients with developmental disorders (51 and 40 cases complicated by trigonocephaly and epilepsy, respectively).
• The results of research should facilitate the understanding of the onset mechanism of developmental disorders and the development and improvement of treatments.

This research project was conducted with the support of the Strategic Research Program for Brain Sciences by AMED.

The results of research were published in the American medical journal Annals of Clinical and Translational Neurology on June 12.

Suzuki T., et al.  A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders Annals of Clinical and Translational Neurology
DOI：10.1002/acn3.51093