DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

doi:10.1038/ejhg.2015.71

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Article

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

European journal of human genetics : EJHG - 1 Nov 2015

Ji Jianling, Lee Hane, Argiropoulos Bob, Dorrani Naghmeh, Mann John, Martinez-Agosto Julian A, Gomez-Ospina Natalia, Gallant Natalie, Bernstein Jonathan A, Hudgins Louanne, Slattery Leah, Isidor Bertrand, Le Caignec Cédric, David Albert, Obersztyn Ewa, Wiśniowiecka-Kowalnik Barbara, Fox Michelle, Deignan Joshua L, Vilain Eric, Hendricks Emily, Horton Harr Margaret, Noon Sarah E, Jackson Jessi R, Wilkens Alisha, Mirzaa Ghayda, Salamon Noriko, Abramson Jeff, Zackai Elaine H, Krantz Ian, Innes A Micheil, Nelson Stanley F, Grody Wayne W, Quintero-Rivera Fabiola

Abstract excerpt

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A ) is a highly conserved gene located in the Down syndrome critical region. It has an important role in early development and regulation of neuronal proliferation. Microdeletions of chromosome 21q22.12q22.3 that include DYRK1A (21q22.13) are rare and only a few pathogenic single-nucleotide variants (SNVs) in the DYRK1A gene have been...

Topics

Abnormalities, Multiple
Chromosome Deletion
Down Syndrome
Facies
Female
Haploinsufficiency
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Male

Microcephaly

Phenotype

Polymorphism, Single Nucleotide

Protein Serine-Threonine Kinases

Protein-Tyrosine Kinases

Dyrk Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 25944381
DOI: 10.1038/ejhg.2015.71
PMCID: PMC4613469

Provenance

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