Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
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.
Castermans
Dries
D
Department for Human Genetics, Laboratory for Biochemical Neuroendocrinology, University of Leuven, Belgium.
Thienpont
Bernard
B
Volders
Karolien
K
Crepel
An
A
Vermeesch
Joris R
JR
Schrander-Stumpel
Connie T
CT
Van de Ven
Wim Jm
WJ
Steyaert
Jean G
JG
Creemers
John Wm
JW
Devriendt
Koen
K
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