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Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.

Development (Cambridge, England) - 15 Apr 2023

Redhead Yushi, Gibbins Dorota, Lana-Elola Eva, Watson-Scales Sheona, Dobson Lisa, Krause Matthias, Liu Karen J, Fisher Elizabeth M C, Green Jeremy B A, Tybulewicz Victor L J

Abstract excerpt

Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), occurs in 1 in 800 live births and is the most common human aneuploidy. DS results in multiple phenotypes, including craniofacial dysmorphology, which is characterised by midfacial hypoplasia, brachycephaly and micrognathia. The genetic and developmental causes of this are poorly understood. Using morphometric analysis of the Dp1Tyb mouse model of DS and...

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Identifiers

PMID: 37102702
DOI: 10.1242/dev.201077
PMCID: PMC10163349

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