The Clinical Treatment And Pathogenic Gene Analysis Of A Chinese Family With Synpolydactyly

Synpolydactyly(SPD,OMIM 186000)is a common autosomal dominant disease in clinic,which of the characteristics manifest syndactyly accompanied with hyperdactylia while the typical presentation is complete and partial webbing between 3rd&4th fingers and 4th&5th toes, with partial or complete digit duplication in the syndactylous web. Some more severe symptoms can occur 4th digit duplication, the most serious cases of SPD may also be one of the other symptoms of congenital malformations, including Split hand deformity, Apert syndrome, Poland’s syndrome, hand foot genital syndrome, etc. SPD cases usually require surgery to remedy with a view to restoring normal fingers and webbed appearance, avoiding secondary finger flexion contractures.Homeobox or Hox for short is present in the eukaryotic 180 bp highly conserved DNA sequences; Homeobox-containing genes general called Homeobox genes; HOX gene is a member of Homeobox family, usually clustered distribution, highly conserved HOX gene mutations can lead to ectopic growth of an organ, which should have normal structure formed by other(homologous) replaced by organs. There are at least 39 human HOX genes, divided into 4 clusters: HOXA, HOXB, HOXC, HOXD, are located on chromosome 7, 17, 12, and 2nd. HOXD13 situates at the 5’ end of the HOXD cluster. There are two exons, study on mutations of exon 1 of which reported more, fewer mutations of Exon 2 were reported.We investigated a Chinese family with two generations, which affected 2 individuals behave as a typical synpolydactyly(SPD). We made a clinical diagnosis according to the family’s family history and clinical signs. The proband accepted surgical treatment and postoperative exercise, and having obtained the informed consent acquisition family members and volunteer 100 control peripheral blood extracted genomic DNA, screening for candidate virulence genes of the family members.The proband in the family received positive therapy, postoperative function and appearance have been improved. Final analysis showed that HOXD13 gene mutation in the two patients of the families, and by the same muatatonal site. No HOXD13 gene mutation had found in the control group. This type of mutation not found in home of all unaffected individuals and independent control entity.Patients with synpolydactyly need active surgical treatment, and HOXD13 gene is the virulence gene of the family with synpolydactyly. This study expands the phenotypic spectrum of HOXD13 gene mutation. The unique clinical of the family and surgical treatment has allowed us to understand more about SPD.