edward lammer, md
In Memoriam
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Birth Defects Study
Conotruncal Heart Defects
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Conotruncal Heart Defects

Conotruncal heart defects represent nearly 20 percent of heart malformations. They represent an important pathogenetic grouping because they can result from abnormalities of second heart field mesenchyme or from cranial neural crest contributions to the forming heart. Our investigations have involved both environmental and genetic factors. Among environmental factors, we have investigated maternal nutritional intakes during pregnancy (Shaw et al.’95; ’10), febrile illnesses (Botto et al.’13). To identify novel candidate genes/loci, we have employed candidate gene DNA sequencing and used array comparative genomic hybridization (array-CGH) to detect chromosomal microdeletions/duplications. We recently reported that almost 2% of males with a conotruncal defect had sex chromosome aneuploidy, a seven-fold increased frequency. We also identified eight chromosomal microdeletions/duplications for conotruncal defects (Osoegawa et al.’13). Each of these chromosomal regions harbors one or more dosage-sensitive conotruncal defect genes. Genome wide screening for copy number variation can be productive for identifying novel genes/loci contributing to nonsyndromic common malformations.

Recent publications:
Lammer EJ, Chak JS, Iovannisci DM, Schultz K, Oesegawa K, Yang W, Shaw GM. Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res 2009; Jan;85(1):30-35.

Osoegawa K, Schultz K, Yun K, Mohammed N, Shaw GM, Lammer EJ. Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) and d-transposition of the great arteries. Mol Genet Genomic Med 2014; 2014 Jul;2(4):341-51.

Osoegawa K, Iovannisci DM, Lin B, Parodi C, Schultz K, Shaw GM, Lammer EJ. Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. Am J Med Genet 2014; 164A:397-406.

Shaw GM, Yang W, Carmichael SL, Vollset SE, Hobbs CA, Lammer EJ, Ueland PM. One-carbon metabolite levels in mid-pregnancy and risks of conotruncal heart defects. Birth Defects Res 2014; 100(2):107-15.

Shaw GM, OMalley CD, Wasserman CR, Tolarova MM, EJ Lammer. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 1995; 59:536-45.

Shaw GM, Carmichael SL, Yang W, Lammer EJ. Periconceptional nutrient intakes and risks of conotruncal heart defects. Birth Defects Res 2010; 88(3):144-151.

Revised: Thursday, September 1, 2016 4:06 PM

 


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