Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Sexual development disorders: Variant prevalence in the Japanese population Researchers in Japan have reported the frequency of mutations related to atypical sexual development in the Japanese population. A team led by Junichi Sugawara of Tohoku University, Sendai, analyzed whole-genome data collected by the Tohoku Medical Megabank Organization from 8380 healthy Japanese people. They screened the genomes for variations in 32 genes linked with central hypogonadism (CHG) and disorders of sex development (DSD), and used bioinformatics to predict the effect of the variants. This revealed 91 potentially pathogenic variants in 25 of the genes, including 28 new variants. The team also estimated the frequency of unaffected carriers of these variants. The analysis provides an overview of the prevalence of these variants in the general Japanese population and also offers valuable data for genetic diagnosis and counseling related to DSD and CHG.