Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, A.D. ; Moss, J.F. ; Selicorni, A. ; Bisgaard, A.M. ; Deardorff, M.A. ; Gillett, P.M. ; Ishman, S.L. ; Kerr, L.M. ; Levin, A.V. ; Mulder, P.A. ; Ramos, F.J. (Universidad de Zaragoza) ; Wierzba, Jl ; Ajmone, P.F. ; Axtell, D. ; Blagowidow, N. ; Cereda, A. ; Costantino, A. ; Cormier-Daire, V. ; FitzPatrick, D. ; Grados, M. ; Groves, L. ; Guthrie, W. ; Huisman, S. ; Kaiser, F.J. ; Koekkoek, G. ; Levis, M. ; Mariani, M. ; McCleery, J.P. ; Menke, L.A. ; Metrena, A ; O'Connor, J. ; Oliver, C. ; Pie, J. (Universidad de Zaragoza) ; Piening, S. ; Potter, C.J. ; Quaglio, A.L. ; Redeker, E. ; Richman, D. ; Rigamonti, C. ; Shi, A. ; Tümer, Z. ; Van Balkom, I.D.C. ; Hennekam, R.C.

Resumen: Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

Idioma: Inglés

DOI: 10.1038/s41576-018-0031-0

Año: 2018

Publicado en: Nature Reviews Genetics 19, 10 (2018), 649-666
ISSN: 1471-0056

Factor impacto JCR: 43.704 (2018)

Categ. JCR: GENETICS & HEREDITY rank: 1 / 174 = 0.006 (2018) - Q1 - T1

Factor impacto SCIMAGO: 30.428 - Genetics (Q1) - Molecular Biology (Q1) - Genetics (clinical) (Q1)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B20
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI12-01318
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI15-0707

Tipo y forma: Review (Published version)

Área (Departamento): Área Fisiología (Dpto. Farmacología y Fisiolog.)
Área (Departamento): Área Pediatría (Dpto. Pediatría Radiol.Med.Fís)