title: Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
abstract: We describe an individual with autism and a coloboma of the eye carrying a mosaicism for a ring chromosome consisting of an inverted duplication of proximal chromosome 14. Of interest, the ring formation was associated with silencing of the amisyn gene present in two copies on the ring chromosome and located at 300 kb from the breakpoint. This observation lends further support for a locus for autism on proximal chromosome 14. Moreover, this case suggests that position effects need to be taken into account, when analyzing genotype-phenotype correlations based on chromosomal imbalances.
authors.affiliation: Department for Human Genetics, Laboratory for Biochemical Neuroendocrinology, University of Leuven, Belgium.
authors.forename: Dries
authors.initials: D
authors.lastname: Castermans
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Karolien
authors.initials: K
authors.lastname: Volders
authors.forename: An
authors.initials: A
authors.lastname: Crepel
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Connie T
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: Wim Jm
authors.initials: WJ
authors.lastname: Van de Ven
authors.forename: Jean G
authors.initials: JG
authors.lastname: Steyaert
authors.forename: John Wm
authors.initials: JW
authors.lastname: Creemers
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D019457:Chromosome Breakage; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003001:Cloning, Molecular; D020440:Gene Duplication; D006238:Haploidy; D006801:Humans; D008297:Male; D009030:Mosaicism; D014178:Translocation, Genetic