DNA sequencing technologies have developed since Frederick Sanger introduced the concept in 1975. Not only were these sequencing technologies indispensable in sequencing the human genome, they have also been extremely helpful in elucidating human genetics and genomics in health and disease. With the progress of high throughput sequencing technologies various approaches have been developed to uncover the genetic basis of disease. Sequencing the entire protein-coding sequence by targeting the whole exome is one of the approaches nowadays used to identify the causative variants of many genetic diseases. Several strategies for exome sequencing have been developed in order to prioritize the potentially pathogenic variants according to the type of inheritance, the family history, the phenotype trait of disease and all available information about the variant and gene. In this study 3 consanguineous and 2 non consanguineous families were analyzed in order to find the causative variant responsible for the proband's phenotype.