title: Clinical phenotype of the recurrent 1q21.1 copy-number variant.
abstract: OBJECTIVE
  To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains.
  
  
  METHODS
  Nineteen individuals with 1q21.1 deletion, 19 individuals with the duplication, and 23 familial controls (noncarrier siblings and parents) spanning early childhood through adulthood were evaluated for psychiatric, neurologic, and other medical diagnoses, and their cognitive, adaptive, language, motor, and neurologic domains were also assessed. Twenty-eight individuals with 1q21.1 CNVs (15 deletion, 13 duplication) underwent structural magnetic resonance brain imaging.
  
  
  RESULTS
  Probands with 1q21.1 CNVs presented with a range of psychiatric, neurologic, and medical disorders. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.
  
  
  CONCLUSIONS
  Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.Genet Med 18 4, 341-349.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Raphael
authors.initials: R
authors.lastname: Bernier
authors.affiliation: Department of Neurology, University of Washington, Seattle, Washington, USA.
authors.forename: Kyle J
authors.initials: KJ
authors.lastname: Steinman
authors.affiliation: Lakeside Center for Autism, Issaquah, Washington, USA.
authors.forename: Beau
authors.initials: B
authors.lastname: Reilly
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Arianne Stevens
authors.initials: AS
authors.lastname: Wallace
authors.affiliation: Department of Neurology, University of California San Francisco, San Francisco, California, USA.
authors.forename: Elliott H
authors.initials: EH
authors.lastname: Sherr
authors.affiliation: Department of Neurology, University of California San Francisco, San Francisco, California, USA.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Pojman
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington, USA.
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gerdts
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Earl
authors.affiliation: Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.|Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Hanson
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Robin P
authors.initials: RP
authors.lastname: Goin-Kochel
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Leandra
authors.initials: L
authors.lastname: Berry
authors.affiliation: Thompson Autism Center, University of Missouri, Columbia, Missouri, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Kanne
authors.affiliation: Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.|Simons Foundation, New York, New York, USA.
authors.forename: LeeAnne Green
authors.initials: LG
authors.lastname: Snyder
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Spence
authors.affiliation: Department of Neurology, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Melissa B
authors.initials: MB
authors.lastname: Ramocki
authors.affiliation: Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.
authors.forename: David W
authors.initials: DW
authors.lastname: Evans
authors.affiliation: Simons Foundation, New York, New York, USA.
authors.forename: John E
authors.initials: JE
authors.lastname: Spiro
authors.affiliation: Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.|Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
authors.affiliation: Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.|Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
authors.forename: David H
authors.identifier: http://orcid.org/0000-0001-8934-4210
authors.initials: DH
authors.lastname: Ledbetter
authors.affiliation: Department of Pediatrics, Columbia University, New York, New York, USA.|Department of Medicine, Columbia University, New York, New York, USA.
authors.forename: Wendy K
authors.identifier: http://orcid.org/0000-0003-3438-5685
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010641:Phenotype; D012042:Registries; D055815:Young Adult