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Article

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.

Scientific reports - 17 Jun 2020

Lee Kyu-Sun, Choi Miri, Kwon Dae-Woo, Kim Doyoun, Choi Jong-Moon, Kim Ae-Kyeong, Ham Youngwook, Han Sang-Bae, Cho Sungchan, Cheon Chong Kun

Abstract excerpt

Dual-specificity tyrosine phosphorylation-regulated kinase 1 A (DYRK1A) is essential for human development, and DYRK1A haploinsufficiency is associated with a recognizable developmental syndrome and variable clinical features. Here, we present a patient with DYRK1A haploinsufficiency syndrome, including facial dysmorphism, delayed motor development, cardiovascular system defects, and brain atrophy. Exome...

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Identifiers

PMID: 32555303
DOI: 10.1038/s41598-020-66750-y
PMCID: PMC7299959

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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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