RGD Reference Report - Genetic abnormalities in FOXP1 are associated with congenital heart defects. - Rat Genome Database

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Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Authors: Chang, SW  Mislankar, M  Misra, C  Huang, N  Dajusta, DG  Harrison, SM  McBride, KL  Baker, LA  Garg, V 
Citation: Chang SW, etal., Hum Mutat. 2013 Sep;34(9):1226-30. doi: 10.1002/humu.22366. Epub 2013 Jul 11.
RGD ID: 11071913
Pubmed: PMID:23766104   (View Abstract at PubMed)
PMCID: PMC5717756   (View Article at PubMed Central)
DOI: DOI:10.1002/humu.22366   (Journal Full-text)

The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FOXP1Humancongenital heart disease  IAGP DNA:missense mutation more ...RGD 
Foxp1Ratcongenital heart disease  ISOFOXP1 (Homo sapiens)DNA:missense mutation more ...RGD 
Foxp1Mousecongenital heart disease  ISOFOXP1 (Homo sapiens)DNA:missense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Foxp1  (forkhead box P1)

Genes (Mus musculus)
Foxp1  (forkhead box P1)

Genes (Homo sapiens)
FOXP1  (forkhead box P1)


Additional Information