The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

doi:10.1101/gr.147991.112

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Article

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Genome research - 1 Sept 2013

Sailani M Reza, Makrythanasis Periklis, Valsesia Armand, Santoni Federico A, Deutsch Samuel, Popadin Konstantin, Borel Christelle, Migliavacca Eugenia, Sharp Andrew J, Duriaux Sail Genevieve, Falconnet Emilie, Rabionet Kelly, Serra-Juhé Clara, Vicari Stefano, Laux Daniela, Grattau Yann, Dembour Guy, Megarbane Andre, Touraine Renaud, Stora Samantha, Kitsiou Sofia, Fryssira Helena, Chatzisevastou-Loukidou Chariklia, Kanavakis Emmanouel, Merla Giuseppe, Bonnet Damien, Pérez-Jurado Luis A, Estivill Xavier, Delabar Jean M, Antonarakis Stylianos E

Abstract excerpt

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control...

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Identifiers

PMID: 23783273
DOI: 10.1101/gr.147991.112
PMCID: PMC3759718

Genes

RIPK4
ZBTB21

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Source receipt: pubmed, retrieved 7 Sept 2026.

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