Homo sapiens Genome sequencing. Homo sapiens

The main object was to detect the pertinent mutation/variant which is associated with microcephaly and intellectual disability (ID) and warrant these phenotypes in two male patients in an Iranian family. After evaluating the patients’ phenotypes and applying targeted-WES for approximately 6500 selected genes which are associated with the ID, we identified a novel in-frame variant of MSDF2A gene, p.(V81del). The physical assessments and medical evaluations confirmed MCPH15 in this family.