Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation
Received date: 2024-06-06
Revised date: 2024-08-06
Online published: 2024-08-08
Supported by
General Fund Project of Xiamen Natural Science Foundation(3502Z202373117);General Fund Project of Fujian Natural Science Foundation(2023J011611)
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.
Libin Mei, Yiyuan Zhang, Xianjing Huang, Hong Ji, Pingping Qiu, Lu Ding, Xuemei He, Ping Li . Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation[J]. Hereditas(Beijing), 2024 , 46(9) : 750 -756 . DOI: 10.16288/j.yczz.24-141
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