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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Dries Castermans1, Bernard Thienpont, Karolien Volders
1Department for Human Genetics, Laboratory for Biochemical Neuroendocrinology, University of Leuven, Belgium.
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.
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