Nail patella syndrome (NPS) is a rare autosomal dominant hereditary disease caused by mutations in LMX1B gene, which characterized by nail malformations, patellar =hypoplasia or absence. The development of technology for gene diagnosis provided conditions for our better understanding its pathogenesis. It is reported that mutation in LMX1Bgene can cause NPS with an autosomal recessive inheritance. However, according to our experience, it is not rigorous to make such a conclusion without genome-wide sequencing or MLPA. By this article, we hope to make more researchers realize the importance of whole genome sequencing and MLPA technology in the diagnosis of nail patella syndrome, so as to guide genetic counseling and prenatal diagnosis more accurately.