Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

• Published in: Circulation. Cardiovascular genetics Vol. 8; no. 4; pp. 572 - 581
• Main Authors: Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S.V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, Maria Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D., Trembath, Richard C.
• Format: Journal Article
• Language: English
• Published: United States 01.08.2015
• Subjects: Adolescent; Adult; Base Sequence; Child; Ectodermal Dysplasia - genetics; Exome - genetics; Family Health; Female; Gene Expression; Genetic Predisposition to Disease - genetics; Haploinsufficiency; Heart Defects, Congenital - genetics; Humans; Limb Deformities, Congenital - genetics; Male; Middle Aged; Models, Molecular; Pedigree; Protein Structure, Tertiary; Receptor, Notch1 - chemistry; Receptor, Notch1 - genetics; Reverse Transcriptase Polymerase Chain Reaction; Scalp Dermatoses - congenital; Scalp Dermatoses - genetics; Sequence Analysis, DNA - methods; Signal Transduction - genetics; Young Adult; heart defects, congenital; genetics; haploinsufficiency; Adams–Oliver syndrome; receptor, NOTCH1

Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, th...