Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip

In conclusion, our findings suggest thatKANSL1 is a novel pathogenic gene for DDH. The identification ofKANSL1 variants has great diagnostic value for identifying individuals with DDH.Key messagesDevelopmental dysplasia of the hip (DDH) is a common anomaly causing adult osteoarthritis. Environmental and genetic factors contribute to DDH, but its exact genetic mechanism is unclear.Using high-throughput whole exome sequencing, we found a novel variant inKANSL1 that was co-inherited by all severely affected individuals diagnosed with DDH from a three-generation family. Further analysis revealed that aKansl1 variant in mice reduced the number of chondrocytes and decreased cartilage matrix, and mouse embryonic stem differentiation assay showed cartilage defects.These findings indicate a direct association between KANSL1 and hip development, expanding the pathogenic gene spectrum in DDH and providing insight into potential new targets for diagnosing and treating hip dysplasia.
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research