LRP1 Gene Mutation Analysis in Developmental Dysplasia of the Hip

This dataset contains Sanger sequencing chromatograms and corresponding sequence files for exons 1-6 of the LRP1 (low density lipoprotein receptor-related protein 1) gene from two unrelated female patients diagnosed with developmental dysplasia of the hip (DDH). The data was generated as part of a mutation screening study to investigate potential genetic variants associated with DDH pathogenesis. Patient 1 (26-year-old female) and Patient 2 (17-year-old female) both presented with bilateral DDH and were treated with periacetabular osteotomy. Genomic DNA was extracted from peripheral blood samples, followed by PCR amplification using specific primers targeting each exon. PCR products were purified and subjected to bidirectional Sanger sequencing on an ABI 3730xl DNA Analyzer. Sequence analysis and variant calling were conducted using Chromas software and BLAST alignment against the human genome assembly GRCh38/hg38, with LRP1 gene located on chromosome 12q13.3. The dataset includes raw sequencing chromatograms in .ab1 format and consensus sequences in FASTA format, with Phred quality scores included in the chromatogram files. Sequence analysis revealed no pathogenic variants in the screened exons of the LRP1 gene in either patient, with all identified variants consistent with wild-type reference sequences or known benign polymorphisms. This study was approved by the Ethics Committee of the Fourth Medical Center of Chinese PLA General Hospital (approval number: 2023KY002-KS001), and written informed consent was obtained from both patients for genetic analysis and data sharing.