Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

doi:10.1093/hmg/ddw409

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Article

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Human molecular genetics - 1 Feb 2017

Evers Jochem M G, Laskowski Roman A, Bertolli Marta, Clayton-Smith Jill, Deshpande Charu, Eason Jacqueline, Elmslie Frances, Flinter Frances, Gardiner Carol, Hurst Jane A, Kingston Helen, Kini Usha, Lampe Anne K, Lim Derek, Male Alison, Naik Swati, Parker Michael J, Price Sue, Robert Leema, Sarkar Ajoy, Straub Volker, Woods Geoff, Thornton Janet M, Wright Caroline F

Abstract excerpt

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Developmental Disorder study. Protein structural analysis reveals that the missense mutations are either close to the ATP or...

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Identifiers

PMID: 28053047
DOI: 10.1093/hmg/ddw409
PMCID: PMC5409128

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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