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Article

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Human genetics - 1 Dec 2016

Hagen Erin M, Sicko Robert J, Kay Denise M, Rigler Shannon L, Dimopoulos Aggeliki, Ahmad Shabbir, Doleman Margaret H, Fan Ruzong, Romitti Paul A, Browne Marilyn L, Caggana Michele, Brody Lawrence C, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James L

Abstract excerpt

Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were...

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Source

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Identifiers

PMID: 27637763
DOI: 10.1007/s00439-016-1727-x
PMCID: PMC5065782

Genes

FGF12
RBFOX1
NODAL
FZD3
NIPBL
TBX6

Provenance

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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