title: Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
abstract: Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune, hematologic, endocrine, and gastrointestinal systems. The majority of cases are due to a terminal deletion of 11q; however interstitial deletions have also been reported. We report on a child with clinical manifestations consistent with JS who had a 2.899 Mb interstitial deletion at 11q24.2-q24.3 which is the smallest interstitial deletion reported so far to our knowledge. This deletion includes the KIRREL3 gene, and given our patient's history of neurocognitive delay and autism spectrum disorder, it raises the possibility that this gene is a candidate for the social and expressive language delay observed in our patient.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Andrea
authors.initials: A
authors.lastname: Guerin
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
authors.forename: Yaser
authors.initials: Y
authors.lastname: Diab
authors.forename: Sébastien
authors.initials: S
authors.lastname: Chénier
authors.forename: Hilary
authors.initials: H
authors.lastname: Christensen
authors.forename: Walter H A
authors.initials: WH
authors.lastname: Kahr
authors.forename: Riyana
authors.initials: R
authors.lastname: Babul-Hirji
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002352:Carrier Proteins / Q000235:genetics*; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000235:genetics* / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics*; D011859:Radiography
chemical_list: D002352:Carrier Proteins; C470936:KIRREL3 protein, human; D008565:Membrane Proteins