1. Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation.
- Author
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Mei LB, Zhang YY, Huang XJ, Ji H, Qiu PP, Ding L, He X, and Li P
- Subjects
- Humans, Female, Wnt Proteins genetics, Pregnancy, Mutation, Male, Adult, Asian People genetics, Homozygote, East Asian People, Proto-Oncogene Proteins, Limb Deformities, Congenital genetics, Genetic Testing, Preimplantation Diagnosis methods, Pedigree
- Abstract
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.
- Published
- 2024
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