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Genetic factors in non‐syndromic congenital heart malformations
Author(s) -
Wessels MW,
Willems PJ
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01435.x
Subject(s) - penetrance , genetics , heart disease , biology , mutation , gene , disease , multifactorial inheritance , medicine , phenotype , pathology , genotype , single nucleotide polymorphism
Wessels MW, Willems PJ. Genetic factors in non‐syndromic congenital heart malformations. The genetic defect in most patients with non‐syndromic congenital heart malformations (CHM) is unknown, although more than 40 different genes have already been implicated. Only a minority of CHM seems to be due to monogenetic mutations, and the majority occurs sporadically. The multifactorial inheritance hypothesis of common diseases suggesting that the cumulative effect of multiple genetic and environmental risk factors leads to disease, might also apply for CHM. We review here the monogenic disease genes with high‐penetrance mutations, susceptibility genes with reduced‐penetrance mutations, and somatic mutations implicated in non‐syndromic CHM.