title: 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
abstract: Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. © 2017 Wiley Periodicals, Inc.
authors.affiliation: The Focus Foundation, Davidsonville, Maryland.
authors.forename: Colleen
authors.initials: C
authors.lastname: Keen
authors.affiliation: Department of Pediatrics, George Washington University, Washington, District of Columbia.|Department of Molecular Genetics, Florida International University, Miami, Florida.
authors.forename: Carole
authors.initials: C
authors.lastname: Samango-Sprouse
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Holly
authors.initials: H
authors.lastname: Dubbs
authors.affiliation: Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007360:Intelligence / Q000235:genetics; D009154:Mutation; D009483:Neuropsychological Tests; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D014705:Verbal Behavior
chemical_list: C574033:NSL1 protein, human; D009687:Nuclear Proteins
keywords: 17q21.31 microdeletion syndrome; KANSL1-related intellectual disability; Koolen-de Vries Syndrome