Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN

ConclusionThis report constitutes the first documented case of achieving a CMS-free offspring through PGT-M in a CMS-affected family. By broadening the known variant spectrum ofRAPSN in the Chinese population, our findings underscore the feasibility and effectiveness of PGT-M for preventing CMS, offering valuable insights for similarly affected families.

Source: Molecular Genetics & Genomic Medicine - March 21, 2024 Category: Genetics & Stem Cells Authors: Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu Tags: ORIGINAL ARTICLE Source Type: research