To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
