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

ABSTRACT:

Background

Congenital 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.

Methods

Application of WES (whole-exome sequencing) for carrier testing and guidance for the PGT-M in the absence of a genetically characterized index patient as well as assisted reproductive technology were employed to prevent the occurrence of birth defects in subsequent pregnancy. The clinical phenotypes of stillborn fetuses were also assessed.

Results

The family carried two likely pathogenic variants

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10955331 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature