Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 16, Issue 10, Pages 1187-1192Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.71
Keywords
autism; mosaic ring chromosome 14; position effect; amisyn
Funding
- Scientific Research-Flanders (FWO, Belgium)
- IWT-Vlaanderen
- Interuniversity Attraction Poles (Belgian State), GOA [2006/12]
- Cure Autism Now (USA)
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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.
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