A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

Abstract

In a male patient with pontocerebellar hypoplasia (PCH) type 3, previously described in this journal [1], we identified a novel hemizygous frameshift mutation in CASK (c.227_228del [p.Glu76Valfs∗6]), which occurred de novo. CASK at Xp11.4 encodes a calcium/calmodulin-dependent serine protein kinase belonging to the membrane-associated guanylate kinase protein family. Heterozygous loss-of-function mutations in CASK cause X-linked intellectual disability (ID), microcephaly, and pontocerebellar hypoplasia in female patients [2].