Comprehensive genetic testing using WES, and MLPA and functional analyses for Japanese MODY patients identified pathogenic variants in 57.1% of the participants – including HNF4A, GCK, HNF1A, HNF1B, ABCC8, and WFS1. Of note, one-third of the pathogenic variants were CNVs, suggesting that CNVs must be included in MODY genetic screening. Abstract...

We constructed a fine-scale genetic map with 150 unrelated Japanese individuals whose genotypes were determined by high-coverage whole-genome sequencing, and the genotype and phasing qualities were carefully controlled by pedigree information. Abstract Genetic maps are fundamental resources for linkage and association studies. A fine-scale...

FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.

We evaluated the outcomes of an online screening questionnaire to identify patients who met NCCN criteria for germline genetic testing among patients referred to a community urology practice. We found that the majority of patients completed the screening questionnaire, among whom approximately 25% met criteria for germline testing, and 8% of patients...

We explore the roles of Satb2 in head development and correlate with the clinical presentation of individuals with SATB2-associated syndrome with remarkable phenotypes of the craniofacial skeleton. The data presented support less well-described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues. ...

Clinical Genetics, Volume 105, Issue 6, Page 587-587, June 2024.