The cardiac phenotype in patients with a CHD7 mutation

Nicole Corsten-Janssen; Wilhelmina S Kerstjens-Frederikse; Gideon J du Marchie Sarvaas; Maria E Baardman; Marian K Bakker; Jorieke E H Bergman; Hanne D Hove; Ketil R Heimdal; Cecilie F Rustad; Raoul C M Hennekam; Robert M W Hofstra; Lies H Hoefsloot; Conny M A Van Ravenswaaij-Arts; Livia Kapusta

doi:10.1161/CIRCGENETICS.113.000054

The cardiac phenotype in patients with a CHD7 mutation

Nicole Corsten-Janssen
, Wilhelmina S Kerstjens-Frederikse
, Gideon J du Marchie Sarvaas
, Maria E Baardman
, Marian K Bakker
, Jorieke E H Bergman
, Hanne D Hove
, Ketil R Heimdal
, Cecilie F Rustad
, Raoul C M Hennekam
, Robert M W Hofstra
, Lies H Hoefsloot
, Conny M A Van Ravenswaaij-Arts
, Livia Kapusta

Department of Clinical Genetics

61 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Circulation. Cardiovascular genetics
Volume	6
Issue number	3
Pages (from-to)	248-54
Number of pages	7
ISSN	1942-325X
DOIs	https://doi.org/10.1161/CIRCGENETICS.113.000054
Publication status	Published - Jun 2013

Keywords

Cohort Studies
DNA Helicases
DNA-Binding Proteins
Female
Heart
Heart Defects, Congenital
Humans
Infant
Male
Mutation
Phenotype

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Corsten-Janssen, N., Kerstjens-Frederikse, W. S., du Marchie Sarvaas, G. J., Baardman, M. E., Bakker, M. K., Bergman, J. E. H., Hove, H. D., Heimdal, K. R., Rustad, C. F., Hennekam, R. C. M., Hofstra, R. M. W., Hoefsloot, L. H., Van Ravenswaaij-Arts, C. M. A., & Kapusta, L. (2013). The cardiac phenotype in patients with a CHD7 mutation. Circulation. Cardiovascular genetics, 6(3), 248-54. https://doi.org/10.1161/CIRCGENETICS.113.000054

Corsten-Janssen, N, Kerstjens-Frederikse, WS, du Marchie Sarvaas, GJ, Baardman, ME, Bakker, MK, Bergman, JEH, Hove, HD, Heimdal, KR, Rustad, CF, Hennekam, RCM, Hofstra, RMW, Hoefsloot, LH, Van Ravenswaaij-Arts, CMA & Kapusta, L 2013, 'The cardiac phenotype in patients with a CHD7 mutation', Circulation. Cardiovascular genetics, vol. 6, no. 3, pp. 248-54. https://doi.org/10.1161/CIRCGENETICS.113.000054

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title = "The cardiac phenotype in patients with a CHD7 mutation",

abstract = "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.",

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AU - Bakker, Marian K

AU - Bergman, Jorieke E H

AU - Hove, Hanne D

AU - Heimdal, Ketil R

AU - Rustad, Cecilie F

AU - Hennekam, Raoul C M

AU - Hofstra, Robert M W

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AB - 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.

KW - Cohort Studies

KW - DNA Helicases

KW - DNA-Binding Proteins

KW - Female

KW - Heart

KW - Heart Defects, Congenital

KW - Humans

KW - Infant

KW - Male

KW - Mutation

KW - Phenotype

U2 - 10.1161/CIRCGENETICS.113.000054

DO - 10.1161/CIRCGENETICS.113.000054

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SP - 248

EP - 254

JO - Circulation. Cardiovascular genetics

JF - Circulation. Cardiovascular genetics

IS - 3

ER -

The cardiac phenotype in patients with a CHD7 mutation

Abstract

Keywords

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