Editor’s Selection on Splicing Variants and Copy Number Variation
Human Genome Variation is delighted to present its first Collection for the March 2019 issue.
Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease
“Identical„ twins in which only one twin has a psychiatric illness may not be so genetically identical after all. A genomic sequencing analysis from Koh-ichiro Yoshiura and colleagues from Nagasaki University Graduate School of Biomedical Sciences, Japan, has identified a 30-year-old male with gender dysmorphia (also known as gender identity disorder) who harbors three non-inherited mutations in a subset of his cells that his healthy twin does not have. The researchers made this finding by sequencing all the protein-coding DNA from five identical twin pairs in which one twin only had a neurodevelopmental disorder (schizophrenia, autism or gender dysphoria ) as well as from a healthy control twin pair. They conclude that mutations that arise in some body cells in later stages of development could help explain psychiatric differences between identical twins.