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Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

Lin WD, Hwu WL, Wang CH, Tsai FJ - Biomedicine (Taipei) (2014)

Bottom Line: Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones.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.Neither mutation was detected in control group.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.

ABSTRACT

Background: Multiple 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.

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 exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.

Conclusions: Our results extended the spectrum of EXT1 mutations, revealing similar incidence of EXT1 and EXT2 in Taiwanese MHE patients.

No MeSH data available.


Related in: MedlinePlus

Schematic profile of mutations on EXT1 and EXT2 genes in Taiwanese patients with multiple hereditary exostoses. GenBank accession numbers of mRNA sequences: EXT1: NM_000127; EXT2-v1 (isoform 1): NM_000401, EXT2-v2 (isoform 2-Reference): NM_207122, EXT2-v3 (isoform 3): NM_001178083.
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Fig3: Schematic profile of mutations on EXT1 and EXT2 genes in Taiwanese patients with multiple hereditary exostoses. GenBank accession numbers of mRNA sequences: EXT1: NM_000127; EXT2-v1 (isoform 1): NM_000401, EXT2-v2 (isoform 2-Reference): NM_207122, EXT2-v3 (isoform 3): NM_001178083.

Mentions: We collected Taiwanese MHE genetic analysis results from literature and were summary in Figure 3 [28-31]. Total thirteen cases were included, nine were familial cases, and four were sporadic cases (31%), higher than previous study estimated (10%) [17]. Interestingly, in these results, six cases had mutant EXT1, seven mutant EXT2 (54%). This result implies that the incidence of EXT2 in Taiwanese MHE is equal or slightly high than EXT1, which differs from Western populations [12, 17]. According to previous literature, mutations observed in coding region of EXT1 and EXT2 that generate frame-shift or nonsense change are dominant [17, 32]. Consider mutation type found in Taiwanese MHE cases: nonsense mutation is major (7/12, 58%), frame-shift type had three (25%), splicing site and missense mutation had one each (8.3%). These proportions concurred with other population studies [12, 13, 15, 17].


Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

Lin WD, Hwu WL, Wang CH, Tsai FJ - Biomedicine (Taipei) (2014)

Schematic profile of mutations on EXT1 and EXT2 genes in Taiwanese patients with multiple hereditary exostoses. GenBank accession numbers of mRNA sequences: EXT1: NM_000127; EXT2-v1 (isoform 1): NM_000401, EXT2-v2 (isoform 2-Reference): NM_207122, EXT2-v3 (isoform 3): NM_001178083.
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Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4265008&req=5

Fig3: Schematic profile of mutations on EXT1 and EXT2 genes in Taiwanese patients with multiple hereditary exostoses. GenBank accession numbers of mRNA sequences: EXT1: NM_000127; EXT2-v1 (isoform 1): NM_000401, EXT2-v2 (isoform 2-Reference): NM_207122, EXT2-v3 (isoform 3): NM_001178083.
Mentions: We collected Taiwanese MHE genetic analysis results from literature and were summary in Figure 3 [28-31]. Total thirteen cases were included, nine were familial cases, and four were sporadic cases (31%), higher than previous study estimated (10%) [17]. Interestingly, in these results, six cases had mutant EXT1, seven mutant EXT2 (54%). This result implies that the incidence of EXT2 in Taiwanese MHE is equal or slightly high than EXT1, which differs from Western populations [12, 17]. According to previous literature, mutations observed in coding region of EXT1 and EXT2 that generate frame-shift or nonsense change are dominant [17, 32]. Consider mutation type found in Taiwanese MHE cases: nonsense mutation is major (7/12, 58%), frame-shift type had three (25%), splicing site and missense mutation had one each (8.3%). These proportions concurred with other population studies [12, 13, 15, 17].

Bottom Line: Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones.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.Neither mutation was detected in control group.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.

ABSTRACT

Background: Multiple 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.

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 exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.

Conclusions: Our results extended the spectrum of EXT1 mutations, revealing similar incidence of EXT1 and EXT2 in Taiwanese MHE patients.

No MeSH data available.


Related in: MedlinePlus