期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 16, 期 10, 页码 1187-1192出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.71
关键词
autism; mosaic ring chromosome 14; position effect; amisyn
资金
- Scientific Research-Flanders (FWO, Belgium)
- IWT-Vlaanderen
- Interuniversity Attraction Poles (Belgian State), GOA [2006/12]
- Cure Autism Now (USA)
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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