title: Identification of novel mutations in the human EXT1 tumor suppressor gene.
abstract: Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene. We have identified six mutations in the human EXT1 gene from six unrelated multiple exostoses families segregating for the EXT gene on chromosome 8. One of the mutations we detected is the same 1-bp deletion in exon 6 that was previously reported in two independent EXT families. The other five mutations, in exons 1, 6, 9, and the splice junction at the 3' end of exon 2, are novel. In each case, the mutation is likely to result in a truncated or nonfunctional EXT1 protein. These results corroborate and extend the previous report of mutations in this gene in two EXT families, and provide additional support for the EXT1 gene as the cause of hereditary multiple exostoses in families showing linkage to chromosome 8.
authors.affiliation: Department of Biology, University of Houston, TX 77204, USA.
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
authors.forename: A
authors.initials: A
authors.lastname: Hill
authors.forename: X
authors.initials: X
authors.lastname: Lin
authors.forename: J
authors.initials: J
authors.lastname: Ahn
authors.forename: N
authors.initials: N
authors.lastname: Brown
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D000099058:Exostosin 1
chemical_list: D017931:DNA Primers; D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1