Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Konark MukherjeeParas A PatelDeepa S RajanLeslie E W LaConteSarika SrivastavaPublished in: Molecular genetics & genomic medicine (2020)
This case study is the first to report survival of a male patient carrying a CASK loss-of-function mutation to adolescence and highlights that improved palliative care could extend survival. Moreover, the genomic position encoding Arg27 in CASK may possess an increased susceptibility to mutations.