We are  now offering full gene sequencing of the CASK gene.  Mutations in CASK have been reported in:

  • females with X-linked mental retardation and microcephaly with pontine and cerebellar hypoplasia.  These mutations are typically de novo and thought to be lethal in males.
  • males with mild to moderate MR with or without nystagmus.  These mutations are typically familial and carrier females are unaffected.