Title: Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Authors: Castermans, Dries ×
Thienpont, Bernard
Volders, Karolien
Crepel, An
Vermeesch, Joris
Schrander-Stumpel, Connie T
Van de Ven, Willem
Steyaert, Jean
Creemers, John
Devriendt, Koenraad #
Issue Date: Oct-2008
Series Title: European Journal of Human Genetics vol:16 issue:10 pages:1187-1192
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.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Laboratory for Molecular Cell Biology (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Associated Laboratories - miscellaneous (-)
Research Group Psychiatry
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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