Whole-Exome Sequencing Identifies Biallelic PCDH12 Variants in Two Pedigrees with Neurodevelopmental Abnormalities
Published: 8 July 2026| Version 1 | DOI: 10.17632/pjb58p7fs4.1
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Genomic DNA was extracted from peripheral blood samples of two Chinese trios with neurodevelopmental disorders. Sanger sequencing was performed to validate four candidate PCDH12 variants screened by WES. Target fragments covering variant loci were amplified via GC-optimized PCR. Bidirectional sequencing was carried out with BigDye Terminator v3.1 kit on ABI 3730xl analyzer. Electropherograms were analyzed to confirm compound heterozygous variants and their parental segregation, supporting the pathogenic evaluation of PCDH12 biallelic variants.
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