Isolation and characterization of genes in the region of chromosome 8 involved in Langer-Giedion syndrome including a candidate gene for hereditary multiple exostosis
- Univ. of Houston, TX (United States); and others
Langer-Giedion syndrome (LGS) is a dominantly inherited developmental disorder responsible for a variety of facial and skeletal abnormalities and mental retardation in some cases. LGS is thought to be a contiguous gene syndrome resulting from lesions in the genes for trichorhino-phalangeal syndrome (TRPSI) and hereditary multiple exostoses (EXTI) and is generally accompanied by interstitial deletions in 8q24.1. Since little is known of the nature of these genes, we have begun to isolate and characterize all of the expressed sequences in this region making use of a cosmid contig that we developed for this region. We have successfully used direct screening of cDNA libraries, exon trapping and CAIGES techniques to identify several expressed DNA sequences that map to this region. These cDNAs have been sequenced and analyzed for open reading frames, common sequence motifs and homologies to know genes. In an attempt to focus the search, we have used a variety of probes and hybridization techniques to map various chromosomal breakpoints in this region that have been shown to affect either TRPSI, EXTI or LGS. One of these expressed sequences spans a region that has been shown to contain a chromosomal breakpoint known to be involved in the EXT phenotype. Thus this gene should be considered a candidate gene for EXTI.
- OSTI ID:
- 134495
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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