Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
Zhiping Zhang,
Xueluo Zhang,
Huiqin Xue
et al.
Abstract:BackgroundCongenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases. Whether preimplantation genetic testing for monogenic disease (PGT‐M) could be used to prevent the potential birth of CMS‐affected children is unclear.MethodsApplication of WES (whole‐exome sequencing) for carrier testing and guidance for the PGT‐M in the absence of a genetically characterized ind… Show more
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