We would like to reply Yang et al., 2020, reporting a patient diagnosed with progressive supranuclear palsy (PSP) who carried two novel heterozygous missense variants in GRN gene. The case reported by raises some concerns. In summary, the study of reports PSP-like phenotype patients carrying gene, putatively compound heterozygous. Finally, we suggest that further analyses (including segregation...

Abstract Background and Aims Inherited kidney diseases (IKDs) account for 10-20% of cases Chronic Kidney Disease (CKD). Mutations in over 400 genes are known as drivers more than 150 monogenic disorders. Clinical diagnosis is often challenging these disorders characterized by numerous clinical features shared many well very variable expression. Over the years, rare-disease databases such OMIM O...

This study aimed to introduce R package pedSimulate, which was built simulate pedigree, genetic merit, phenotype, and genotype data. These are amongst the most important data types that animal breeders quantitative geneticists deal with. Twenty pedigrees with ten generations were simulated applying different combinations of three parameters: variance (10 vs. 20), proportion males selected 20%),...

With the better understanding of human genome and genetic contributions to complex diseases, more clinical tests have been developed for prevention, diagnosis, treatment diseases. This has raised new challenges classroom teaching medical genetics (MG) in education undergraduates, who are relatively naive about theory technology MG. A clear genotype-phenotype relationships is critical MG learnin...