title: Special cases in Cornelia de Lange syndrome: The Spanish experience.
abstract: Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene. © 2016 Wiley Periodicals, Inc.
authors.forename: Juan
authors.initials: J
authors.lastname: Pié
authors.forename: Beatriz
authors.initials: B
authors.lastname: Puisac
authors.forename: Maria
authors.initials: M
authors.lastname: Hernández-Marcos
authors.forename: Maria Esperanza
authors.initials: ME
authors.lastname: Teresa-Rodrigo
authors.forename: Maria
authors.initials: M
authors.lastname: Gil-Rodríguez
authors.forename: Carolina
authors.initials: C
authors.lastname: Baquero-Montoya
authors.forename: Maria
authors.initials: M
authors.lastname: Ramos-Cáceres
authors.forename: Maria
authors.initials: M
authors.lastname: Bernal
authors.forename: Ariadna
authors.initials: A
authors.lastname: Ayerza-Casas
authors.forename: Inés
authors.initials: I
authors.lastname: Bueno
authors.forename: Paulino
authors.initials: P
authors.lastname: Gómez-Puertas
authors.forename: Feliciano J
authors.initials: FJ
authors.lastname: Ramos
mesh_terms: D018797:Cell Cycle Proteins; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D011506:Proteins / Q000235:genetics; D013030:Spain
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins
keywords: Cornelia de Lange syndrome; NIPBL; somatic mosaicism; splicing variants