Analysis of LRP1 gene mutation in developmental dysplasia of the hip: a case series

Developmental dysplasia of the hip (DDH) is a multifactorial disorder that affects 0.56-3.8% of newborns worldwide. Recent research has identified several candidate genes potentially involved in DDH pathogenesis, with LRP1 investigated as a candidate gene due to its regulatory role in cartilage development. This study presents a genetic analysis of two female DDH patients (17 and 26 years old) diagnosed through radiographic examination. Genomic DNA was extracted from peripheral blood samples of the two female patients with DDH. We performed targeted genetic analysis of LRP1 exons 6, 32, 40, and 74, which have been previously implicated in DDH pathogenesis. DNA was extracted from peripheral blood samples, amplified via polymerase chain reaction (PCR), and analyzed using Sanger sequencing. Despite clear clinical DDH diagnoses, neither patient carried mutations in the examined LRP1 exons and displayed only wild-type sequences. These findings indicate that no pathogenic LRP1 variants were detected in these two DDH patients. This case report provides preliminary descriptive data on LRP1 exonic regions in DDH. The absence of detected variants in these specific loci suggests that future investigations should utilize high-throughput sequencing strategies in larger cohorts to more comprehensively explore the genetic basis of the disorder.