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.