title: An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome:  an intragenic deletion predicting loss of the N-terminal region of NIPBL.
abstract: Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000. Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows – characteristic limb defects and a distinctive pattern of growth and development. Approximately half of all classical cases of CdLS have heterozygous loss of-function mutations in the gene encoding NIPBL, a component of the cohesion-loading apparatus (Dorsett and Krantz, 2009). Herein we describe a patient with a rare intragenic deletion of NIPBL who has typical microcephaly and developmental problems but atypical growth pattern and facial features.
authors.affiliation: South-east Scotland Clinical Genetics Services Western General Hospital, Edinburgh, Clinical Cytogenetics Laboratory Western General Hospital, Edinburgh, MRC Human Genetics Unit, Western General Hospital Edinburgh, Department of Paediatric Cardiology Royal Hospital for Sick Children, Edinburgh, Department of Paediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children, Edinburgh Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
authors.forename: Jennie E
authors.initials: JE
authors.lastname: Murray
authors.forename: Muhammed
authors.initials: M
authors.lastname: Walayat
authors.forename: Peter
authors.initials: P
authors.lastname: Gillett
authors.forename: Freddie H
authors.initials: FH
authors.lastname: Sharkey
authors.forename: Diana
authors.initials: D
authors.lastname: Rajan
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
mesh_terms: D018797:Cell Cycle Proteins; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins