Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation
Split-hand/foot malformation is a serious congenital limb malformation characterized by syndactyly and underdevelopment of the phalanges and metatarsals.In this study,we reported a case of a fetus with hand-foot cleft deformity.Whole exome and Sanger sequencing were used to filter out candidate gene mutation sites and provide pre-implantation genetic testing(PGT)for family members.Genetic testing results showed that there was a homozygous mutation c.786G＞A(p.Trp262*)in the fetal WNT10B,and both parents were carriers of heterozygous mutations.PGT results showed that out of the two blastocysts,one was a heterozygous mutant and the other was a homozygous mutant.All the embryos had diploid chromosomes.The heterozygous embryo was transferred,and a singleton pregnancy was successfully achieved.This study suggests that homozygous mutations in WNT10B are the likely cause of hand-foot clefts in this family.For families with monogenic diseases,preimplantation genetic testing can effectively prevent the birth of an affected child only after identifying the pathogenic mutation.
万方数据
维普
