Human Molecular Genetics, Vol 6, 1241-1250, Copyright © 1997 by Oxford University Press
Y Ishikawa-Brush, JF Powell, P Bolton, AP Miller, F Francis, HF Willard, H Lehrach and AP Monaco
An X;8 translocation was identified in a 27-year-old female patient
manifesting multiple exostoses and autism accompanied by mental retardation
and epilepsy. Through molecular analysis using yeast artificial chromosomes
(YACs) and cosmid clones, the translocation breakpoint was isolated and
confirmed to be reciprocal within a 5'-GGCA- 3' sequence found on both X
and 8 chromosomes without gain or loss of a single nucleotide. The
translocation breakpoint on the X chromosome occurred in the first intron
of the gastrin-releasing peptide receptor (GRPR) gene and that on
chromosome 8 occurred approximately 30 kb distal to the 3' end of the
Syndecan-2 gene (SDC2), also known as human heparan sulfate proteoglycan or
fibroglycan. The GRPR gene was shown to escape X-inactivation. A dosage
effect of the GRPR and a position effect of the SDC2 gene may, however,
contribute the phenotype observed in this patient since the orientation of
these genes with respect to the translocation was incompatible with the
formation of a fusion gene. Investigation of mutations in these two genes
in unrelated patients with either autism or multiple exostoses as well as
linkage and association studies is needed to validate them as candidate
genes.
ARTICLES
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK.
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