title: Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].
abstract: In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc.
authors.affiliation: Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
authors.forename: Nina
authors.initials: N
authors.lastname: Pereza
authors.affiliation: Department of Intensive Care, Neurology and Metabolic Diseases, Clinics for Children's Diseases, Clinical Hospital Centre Rijeka, Rijeka, Croatia.
authors.forename: Srećko
authors.initials: S
authors.lastname: Severinski
authors.affiliation: Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
authors.forename: Saša
authors.initials: S
authors.lastname: Ostojić
authors.affiliation: Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
authors.forename: Marija
authors.initials: M
authors.lastname: Volk
authors.affiliation: Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
authors.forename: Aleš
authors.initials: A
authors.lastname: Maver
authors.affiliation: Department of Intensive Care, Neurology and Metabolic Diseases, Clinics for Children's Diseases, Clinical Hospital Centre Rijeka, Rijeka, Croatia.
authors.forename: Kristina Baraba
authors.initials: KB
authors.lastname: Dekanić
authors.affiliation: Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
authors.forename: Miljenko
authors.initials: M
authors.lastname: Kapović
authors.affiliation: Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors
keywords: Cornelia de Lange syndrome; Langer-Giedion syndrome; chromosome deletion