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台湾多发性遗传性骨软骨瘤患者的突变

Mutant in Taiwanese Patients with Multiple Hereditary Exostoses.

作者信息

Lin Wei-De, Hwu Wuh-Liang, Wang Chung-Hsing, Tsai Fuu-Jen

机构信息

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

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan.

出版信息

Biomedicine (Taipei). 2014;4(2):11. doi: 10.7603/s40681-014-0011-4. Epub 2014 Aug 1.

DOI:10.7603/s40681-014-0011-4
PMID:25520924
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4265008/
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 and .

METHODS

Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of and , including intron/exon boundaries, sequenced via DNA samples drawn from participants.

RESULTS

DNA sequencing revealed mutant 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 mutations, revealing similar incidence of and in Taiwanese MHE patients.

摘要

背景

多发性遗传性骨软骨瘤（MHE）的特征是有多个由软骨覆盖的骨良性突起，在长骨的干骺端最为常见。遗传性多发性骨软骨瘤（HME）通常以常染色体显性模式遗传，主要相关基因有 和 。

方法

从临床中识别出两名MHE患者并纳入基因研究，通过采集参与者的DNA样本对 和 的完整编码区（包括内含子/外显子边界）进行测序。

结果

DNA测序显示，两例患者均存在 基因突变，其中外显子1发生移码突变c.447delC（p.Ser149fsX156），外显子10发生无义突变c.2034T>G（p.Tyr678X）。对照组未检测到这两种突变。

结论

我们的研究结果扩展了 基因突变谱，揭示了台湾MHE患者中 和 突变的发生率相似。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/72dd88ee0e13/40681_2014_11_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/ffc0bff42426/40681_2014_11_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/daf64e2abcd5/40681_2014_11_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/72dd88ee0e13/40681_2014_11_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/ffc0bff42426/40681_2014_11_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/daf64e2abcd5/40681_2014_11_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faa6/4441629/72dd88ee0e13/40681_2014_11_Fig5_HTML.jpg

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本文引用的文献

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Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.对多发性骨软骨瘤中国患者的 EXT1 和 EXT2 基因进行突变筛查。
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Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
EXT1 和 EXT2 基因中新发和频发突变与中国人多发性骨软骨瘤家系相关。
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Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1.人类基因突变。基因符号：EXT1。疾病：多发性外生骨疣1型。
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Human gene mutations. Gene symbol: EXT2. Disease: exostoses (multiple) 2.人类基因突变。基因符号：EXT2。疾病：多发性外生骨疣2型。
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