Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly

Abstract

To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship. Genomic DNA was extracted from peripheral blood samples of the patients and their family members. Polymerase chain reaction (PCR) was performed to amplify all the exons of P63 gene and HOXD13 gene. Then the PCR products were sequenced bidirectionally to screen mutations. A heterozygous 956G>A transversion in exon 7 of P63 gene was identified in all patients, which resulted in the substitution of histidine residue for arginine at position 280 of P63 protein (R280H). This mutation was not found in the unaffected family members. Patients in this pedigree are characterized by symmetrical split hand and split foot with syndactyly. This condition is caused by the R280H mutation in P63 gene.