The Pathogenic Gene Analysis Of A Chinese Family With Syndactyly/Split-hand

Background: Congenital syndactyly is a common autosomaldominant disease, which is a variable fusion of the soft tissueand/or skeletal elements of adjacent digits. Cleft hand ischaracterized by a cleft in the center of the hand. Syndactylyis different from cleft hand in both clinical features andinheritance. There are often many members in traditionalChinese family, so it is possible for us to collect largepedigrees with hand malformation. We have found a family ofChina’s Jilin Province, which included some members with simplesyndactyly and other members with complex split-hand.Objective: To study the clinical features and determine thecausative gene mutation in a Chinese family withsyndactyly/split-hand malformation.Methods: Clinical data and peripheral blood sample of thefamily members were obtained through field investigation. We collected the data of12patients and extracted genomic DNA fromperipheral blood obtained from11members(included9patients).Polymerase chain reaction(PCR) was performed to amplify all theexons of HOXD13, P63, GJA1, SHH, LMBR1genes. Then the PCRproducts were sequenced bidirectionally to screen mutations.Results: There are19patients in the Chinese pedigreeconsisting of40members. There are8of12patients with simplesyndactyly, and others with complex split-hand. According toanalysis of the pedigree of the patients is consistent withautosomal dominant inheritance. The mutation of HOXD13, P63,GJA1, SHH, LMBR1were not found in this family.Conclusion: Patients in this pedigree are characterized bycomplex split-hand and sample syndactyly. This condition is notcaused by the mutation in HOXD13, P63, GJA1, SHH, LMBR1.Anunknown mutation may contribute to hand malformation in thisChinese family.