Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

ABSTRACT: The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specifically DYRK1A. Most of these patients have microcephaly and all have significant intellectual disability.

SUBMITTER: Bronicki LM 

PROVIDER: S-EPMC4613470 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature