Genetic testing in Marfan syndrome

Anne H Child; Jose A Aragon-Martin; Karen Sage

doi:10.12968/hmed.2016.77.1.38

Genetic testing in Marfan syndrome

Br J Hosp Med (Lond). 2016 Jan;77(1):38-41. doi: 10.12968/hmed.2016.77.1.38.

Authors

Anne H Child¹, Jose A Aragon-Martin², Karen Sage³

Affiliations

¹ Reader in Cardiovascular Genetics in the Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London SW17 0RE.
² Scientific Director of the Sonalee Laboratory, Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London.
³ Medical Genetic Counsellor and PGD Specialist, The Bridge Centre, London Fertility Clinic, London.

PMID: 26903455
DOI: 10.12968/hmed.2016.77.1.38

Abstract

Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.

Publication types

Review

MeSH terms

Amniocentesis / methods
Chorionic Villi Sampling / methods
Connective Tissue Diseases / genetics
Connective Tissue Diseases / physiopathology
Fibrillins
Genetic Testing / methods*
Humans
Marfan Syndrome / genetics*
Microfilament Proteins / genetics
Mutation
Phenotype
Preimplantation Diagnosis / methods
Prenatal Diagnosis / methods

Substances

Fibrillins
Microfilament Proteins