Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

doi:10.1093/hmg/ddr589

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Article

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Human molecular genetics - 1 Apr 2012

Soemedi Rachel, Topf Ana, Wilson Ian J, Darlay Rebecca, Rahman Thahira, Glen Elise, Hall Darroch, Huang Ni, Bentham Jamie, Bhattacharya Shoumo, Cosgrove Catherine, Brook J David, Granados-Riveron Javier, Setchfield Kerry, Bu'lock Frances, Thornborough Chris, Devriendt Koenraad, Breckpot Jeroen, Hofbeck Michael, Lathrop Mark, Rauch Anita, Blue Gillian M, Winlaw David S, Hurles Matthew, Santibanez-Koref Mauro, Cordell Heather J, Goodship Judith A, Keavney Bernard D

Abstract excerpt

Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within the ~1 Mb critical region responsible for each of the associated phenotypes remains unknown. We examined the 1q21.1 locus in 948 patients with tetralogy of Fallot...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22199024
DOI: 10.1093/hmg/ddr589
PMCID: PMC3298277

Genes

GJA5

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