Corsten-Janssen, Nicole2; Kerstjens-Frederikse, Wilhelmina S3; du Marchie Sarvaas, Gideon J3; Baardman, Maria E3; Bakker, Marian K3; Bergman, Jorieke E H3; Hove, Hanne D1; Heimdal, Ketil R3; Rustad, Cecilie F3; Hennekam, Raoul C M3; Hofstra, Robert M W3; Hoefsloot, Lies H3; Van Ravenswaaij-Arts, Conny M A3; Kapusta, Livia3
1 Klinisk Genetisk Klinik, Juliane Marie Centre, Rigshospitalet, The Capital Region of Denmark2 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.3 unknown
Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies are small and do not provide a detailed classification of the defects. We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7 in cardiac development.
Circulation. Cardiovascular Genetics, 2013, Vol 6, Issue 3, p. 248-54