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Background  Chromosomal deletions encompassing  DYRK1A  have been associated with intellectual disability for several years. More recently, point mutations in  DYRK1A  have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. Here we present 2 individuals with novel mutations in  DYRK1A , and a review of the cases reported to date.    Case presentation  Both individuals presented with the well-known characteristic features, as well as rarer anomalies seen in a minority of patients. Patient 1 presented shortly after birth with an enlarged cisterna magna, distal contractures, and distinctive facies that included bitemporal narrowing and deep set eyes. A  de novo  splice site mutation in  DYRK1A  [c.951 + 4_951 + 7delAGTA; p.Val222Aspfs*22] was identified by next generation sequencing. Patient 2 presented at 7 months of age with microcephaly and dysmorphic features. She went several years without a diagnosis until a  de novo DYRK1A  nonsense mutation [c.787C>T; p.(Arg263*)] was identified at age 12. These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the  DYRK1A -related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. Other common findings include seizures, vision defects, brain abnormalities and skeletal abnormalities of the hands and feet. Less common features include optic nerve defects, contractures, ataxia, and cardiac anomalies.    Conclusion   DYRK1A  testing should be considered in individuals with the facial features, intellectual disability and post-natal microcephaly. Once diagnosed with  DYRK1A -related intellectual disability, a cardiac and ophthalmologic assessment would be recommended as would routine surveillance by a pediatrician for psychomotor development, growth, and feeding.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature