Research On Genotype And Pedigree Of Congenital Syndactyly Malformation

Polydactyly was one of the most common congenital limb malformation,which not only involved the number of digits,but also the structures and the appearences.Besides,the dysplasia of the joint structure and tendon insertion often found in the desease.The occurrence of polydactyly resulted from the dysplastic development of the upper and posterior axis of the embryo in the embryonic stage.According to the pathogenesis and clinical manifestations,polydactyly can have a variety of different classification methods.In this study,the clinical samples of congenital polydactyly were collected and categorized according to Temtamy and Mc Kusick classification.The whole exon sequencing and sanger sequencing were used for genetic screening,combining with extensive literature review and data analysis.In addition,we also collected 3 polydactyly family,and pedigree analysis were performed.And the pathogenesis of the family was discussed based on the results of whole exon sequencing and sanger sequencing.Through the screening,the LMBR1 A682 G mutation in the 7q36 was found in one sample,the related mutant genes of TM1 and TM2 may also located in 7q36 section.Congenital polydactyly could be autosomal dominant(AD)or recessive(AR),and could also be caused by the de nove genetic mutation,Incomplete penetrance could happen in some situation,through the whole exon sequencing data screening of the two family members,A insert mutation(c.1180₁181ins T:p.P394fs)in exon 8 of GLI3 might be related to the disease phenotype of pedgree 1;and a deletion(c.610 del C:p.P204fs)in exon 1 of HOXD13 might be related to the disease phenotype of pedgree 2.These mutation was first reported and might give a giudence to the future research.And the related functional verification needs further research and experiment.