Vietnamese scientists discover three new gene mutations that cause syndactyly in children

18/08/2022

Three new gene mutations causing syndactyly in children that have never been published on the world gene bank have been discovered by Vietnamese scientists, helping to support prenatal diagnostic screening and premarital counseling. This is the result of a study conducted by Dr. Nguyen Thy Ngoc, lecturer at Faculty of Life Sciences, University of Science and Technology, Hanoi (USTH) and colleagues. The results of this study have important implications in supporting thorough prenatal screening and assisting doctors in detection, diagnosis and treatment.

Since 2017, Dr. Ngoc and her colleagues collaborated with the Genome Research Institute, Vietnam National Hospital of Pediatrics, to find the gene mutations associated with finger adhesion defects. During the study, the scientists discovered three new gene mutations in the genes GJA1, GLI3 and ESCO2 in patients with mild toe-to-finger fusion, with genetic factors in the family.

To learn more about the research process of the web portal of Vietnam Academy of Science and Technology, we would like to introduce to readers the report "Scientist looking for the cause of hand-limb defects in children" conducted by VTC9 channel. Presented on the occasion of celebrating Vietnam Science and Technology Day 18/5.

Sincerely watch the video at the link: https://www.youtube.com/watch?v=A4Lt1H6wF3E