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


ABSTRACT: 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. D

SUBMITTER: Cheng T 

PROVIDER: S-EPMC12911242 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature