Journal Article

Autism and Multiple Exostoses Associated with an X;8 Translocation Occurring Within the <i>GRPR</i> Gene and 3′ to the <i>SDC2</i> Gene

Yumiko Ishikawa-Brush, John F. Powell, Patrick Bolton, Andrew P. Miller, Fiona Francis, Huntington F. Willard, Hans Lehrach and Anthony P. Monaco

in Human Molecular Genetics

Volume 6, issue 8, pages 1241-1250
Published in print August 1997 | ISSN: 0964-6906
Published online August 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.8.1241
Autism and Multiple Exostoses Associated with an X;8 Translocation Occurring Within the GRPR Gene and 3′ to the SDC2 Gene

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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 ∼30 kb distal to the 3′ end of the Syndecan-2 gene (SDC2), also known as human heparan sulfate proteoglycan or fibroglycan. The GRPRgene 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.

Journal Article.  6679 words.  Illustrated.

Subjects: Genetics and Genomics

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