title: Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.
abstract: Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case.
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Martine Isabel
authors.initials: MI
authors.lastname: Boyle
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Cathrine
authors.initials: C
authors.lastname: Jespersgaard
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Lusine
authors.initials: L
authors.lastname: Nazaryan
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Kirstine
authors.initials: K
authors.lastname: Ravn
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bisgaard
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Glostrup, Denmark. Electronic address: Zeynep.tumer@regionh.dk.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D054648:Protein Phosphatase 2 / Q000235:genetics; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C500695:CDCA5 protein, human; D018797:Cell Cycle Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C093175:neurexin II; C503493:PPP2R5B protein, human; D054648:Protein Phosphatase 2
keywords: 11q12.3–11q13.1; CDCA5; Cornelia de Lange syndrome; Intellectual disability; NRXN2; PPP2R5B