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

ABSTRACT:

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 no

SUBMITTER: Luco SM 

PROVIDER: S-EPMC4769499 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature