CEP290 and Meckel syndrome, type 1: Whole exome sequencing is more accurate, rapid and cost‐effective tool for early and timely molecular genetic analysis allowing clinicians for making accurate clinical diagnosis.35, 36 So, our present study not only report the first variant of CEP290 gene in a patient with MKS4 in Chinese population, but also strongly emphasizes the significance of WES as an accurate, rapid and cost‐effective tool for molecular genetic analysis for the patients with MKS.