Limits...
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

Sequences of novel mutations observed from patients’ EXT1 gene. Arrows indicate mutation sites. (A) A one-base C deleted at nucleotide 447 (c.447delC), (B) G to A substitution at nucleotide 2034 (c.2034T>G) resulting in p.Tyr678X
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC4265008&req=5

Fig2: Sequences of novel mutations observed from patients’ EXT1 gene. Arrows indicate mutation sites. (A) A one-base C deleted at nucleotide 447 (c.447delC), (B) G to A substitution at nucleotide 2034 (c.2034T>G) resulting in p.Tyr678X

Mentions: To identify possible exonic mutations in EXT1 and EXT2 causing MHE, entire coding sequence on 26 DNA fragments, each covering an exon and its flanking regions, was amplified. Analysis of EXT1 and EXT2 in both patients identified one frame-shift and one nonsense mutation in EXT1. To our knowledge, neither has been described in prior article (Figure 2).


Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

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

Sequences of novel mutations observed from patients’ EXT1 gene. Arrows indicate mutation sites. (A) A one-base C deleted at nucleotide 447 (c.447delC), (B) G to A substitution at nucleotide 2034 (c.2034T>G) resulting in p.Tyr678X
© Copyright Policy
Related In: Results  -  Collection

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

Fig2: Sequences of novel mutations observed from patients’ EXT1 gene. Arrows indicate mutation sites. (A) A one-base C deleted at nucleotide 447 (c.447delC), (B) G to A substitution at nucleotide 2034 (c.2034T>G) resulting in p.Tyr678X
Mentions: To identify possible exonic mutations in EXT1 and EXT2 causing MHE, entire coding sequence on 26 DNA fragments, each covering an exon and its flanking regions, was amplified. Analysis of EXT1 and EXT2 in both patients identified one frame-shift and one nonsense mutation in EXT1. To our knowledge, neither has been described in prior article (Figure 2).

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