CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.
نویسندگان
چکیده
Cheryl L. Maslen,* Darcie Babcock, Susan W. Robinson, Lora J.H. Bean, Kenneth J. Dooley, Virginia L. Willour, and Stephanie L. Sherman Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, Oregon Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon Heart Research Center, Oregon Health & Science University, Portland, Oregon Department of Human Genetics, Emory University, Atlanta, Georgia Department of Pediatrics, Sibley Heart Center, Cardiology, Children’s Healthcare of Atlanta, Emory University, Atlanta, Georgia Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, Maryland
منابع مشابه
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects
Atrioventricular septal defects (AVSD) are highly heritable, clinically significant congenital heart malformations. Genetic and environmental modifiers of risk are thought to work in unknown combinations to cause AVSD. Approximately 5-10% of simplex AVSD cases carry a missense mutation in CRELD1. However, CRELD1 mutations are not fully penetrant and require interactions with other risk factors ...
متن کاملAn excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly occurring heart defects in Down syndrome (DS), and ∼65% of all AVSD is associated with DS. We us...
متن کاملGenetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
BACKGROUND About half of people with Down syndrome (DS) exhibit some form of congenital heart disease (CHD); however, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD, as half of all people with DS have a normal heart, suggesting that genetic modifiers interact with dosage-sensitive gene(s) on Hsa21 to result in CHD. We hypothesize that a threshold exists in both DS an...
متن کاملMolecular genetics of congenital heart disease. A problem of faulty septation.
The transition from the single circulation of the embryo to the double circulation of the neonatal and adult heart involves the transformation of the primitive heart tube through a complex morphogenetic process, resulting in completely separated right and left heart chambers and distinct pulmonary and systemic circulations. Septation of heart chambers starts at early stages in embryogenesis and...
متن کاملPenetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.
Down syndrome (DS) is a significant risk factor for congenital heart disease (CHD), increasing the incidence 50 times over the general population. However, half of people with DS have a normal heart and thus trisomy 21 is not sufficient to cause CHD by itself. Ts65Dn mice are trisomic for orthologs of >100 Hsa21 genes, and their heart defect frequency is significantly higher than their euploid ...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 140 22 شماره
صفحات -
تاریخ انتشار 2006