A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1
Identifieur interne : 008317 ( Main/Exploration ); précédent : 008316; suivant : 008318A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1
Auteurs : Thomas C. Hart ; Yingze Zhang ; Michael C. Gorry ; P. Suzanne Hart [États-Unis] ; Margaret Cooper ; Mary L. Marazita ; Jared M. Marks ; Jose R. Cortelli [Brésil] ; Debora Pallos [Brésil]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2002.
Abstract
Hereditary gingival fibromatosis (HGF) is a rare, autosomal dominant form of gingival overgrowth. Affected individuals have a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. Genetic loci for autosomal dominant forms of HGF have been localized to chromosome 2p21-p22 (HGF1) and chromosome 5q13-q22 (HGF2). To identify the gene responsible for HGF1, we extended genetic linkage studies to refine the chromosome 2p21-p22 candidate interval to ∼2.3 Mb. Development of an integrated physical and genetic map of the interval identified 16 genes. Sequencing of these genes, in affected and unaffected HGF1 family members, identified a mutation in the
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PubMed: 11868160
PubMed Central: 379122
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>Hereditary gingival fibromatosis (HGF) is a rare, autosomal dominant form of gingival overgrowth. Affected individuals have a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. Genetic loci for autosomal dominant forms of HGF have been localized to chromosome 2p21-p22 (HGF1) and chromosome 5q13-q22 (HGF2). To identify the gene responsible for HGF1, we extended genetic linkage studies to refine the chromosome 2p21-p22 candidate interval to ∼2.3 Mb. Development of an integrated physical and genetic map of the interval identified 16 genes. Sequencing of these genes, in affected and unaffected HGF1 family members, identified a mutation in the <italic>Son of sevenless–1</italic>
(<italic>SOS1</italic>
) gene in affected individuals. In this report, we describe the genomic structure of the <italic>SOS1</italic>
gene and present evidence that insertion of a cytosine between nucleotides 126,142 and 126,143 in codon 1083 of the <italic>SOS1</italic>
gene is responsible for HGF1. This insertion mutation, which segregates in a dominant manner over four generations, introduces a frameshift and creates a premature stop codon, abolishing four functionally important proline-rich SH3 binding domains normally present in the carboxyl-terminal region of the SOS1 protein. The resultant protein chimera contains the wild-type SOS1 protein for the N-terminal amino acids 1–1083 fused to a novel 22–amino acid carboxyl terminus. Similar SOS1 deletion constructs are functional in animal models, and a transgenic mouse construct with a comparable SOS1 chimera produces a phenotype with skin hypertrophy. Clarification of the functional role of this SOS1 mutant has implications for understanding other forms of gingival fibromatosis and corrective gingival-tissue management.</p>
</div>
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