Abstract
BackgroundMultiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2.MethodsTwo MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2, including intron/exon boundaries, sequenced via DNA samples drawn from participants.ResultsDNA sequencing revealed mutant EXT1 gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.ConclusionsOur results extended the spectrum of EXT1 mutations, revealing similar incidence of EXT1 and EXT2 in Taiwanese MHE patients.
Highlights
Multiple hereditary exostoses (MHE; known as multiple osteochondromas, MIM#133700, 133701), most frequent human benign bone tumors, are characterized by multiple outgrowth of bone capped by cartilage, mostly in the metaphyses and occurring on diaphyses of long bones
Because exostoses come from the growth plate, they may consist of deformities and various levels of functional limitation
Only mutant exostosin 1 (EXT1) and EXT2 are involved with MHE, no MHE cases have been identified with mutant EXTL1-3
Summary
Multiple hereditary exostoses (MHE; known as multiple osteochondromas, MIM#133700, 133701), most frequent human benign bone tumors, are characterized by multiple outgrowth of bone capped by cartilage, mostly in the metaphyses and occurring on diaphyses of long bones. Because exostoses come from the growth plate, they may consist of deformities and various levels of functional limitation (sensory or motor deficits). Complications, such as compression of nerves and blood vessels, pain caused by pressure on neighboring tissue, and short stature, are common [3]. Methods:Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2, including intron/exon boundaries, sequenced via DNA samples drawn from participants. Results:DNA sequencing revealed mutant EXT1 gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon and nonsense mutation c.2034T>G (p.Tyr678X) in exon, emerged. Conclusions:Our results extended the spectrum of EXT1 mutations, revealing similar incidence of EXT1 and EXT2 in Taiwanese MHE patients
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