一个患有Ⅰ型远端关节挛缩症的中国家系中β-原肌球蛋白基因的突变
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
作者信息
Jin Jie-Yuan, Wu Pan-Feng, Fan Liang-Liang, Yu Fang, Li Jing-Jing, Fan Xue-Feng, Huang Hao, Zeng Lei, Tang Ju-Yu, Xiang Rong
机构信息
Department of Orthopedics, Xiangya Hospital of Central South University Changsha 410078, China.
School of Life Sciences, Central South University Changsha 410013, China.
出版信息
Int J Clin Exp Pathol. 2017 Nov 1;10(11):11137-11142. eCollection 2017.
BACKGROUND
Distal arthrogryposis (DA) is the most common congenital limb malformation secondary to the functional defects of joints and muscles. DA1 is one of the most commonly described forms of DA. The characteristics of DA1 include bilateral and symmetric clenched fist, overlapping fingers, camptodactyly, ulnar deviation of fingers, and positional foot deformities such as talipes equinovarus. Previous studies demonstrate that mutations of and may contribute to DA1.
MATERIALS AND METHODS
The present study investigated 8 DA1 families/patients and 1 DA2B patient, determined sequences of and and detected the mutation by multiple sequence alignments and bioinformatic prediction of mutation.
RESULTS
We identified a novel missense mutation of (c.463G>A; p.A155T) in a DA1 family without genetic mutant of and .
CONCLUSION
The mutation of (c.463G>A; p.A155T) led to DA1 of the family. The identification of the mutation expands the spectrum of known mutations, and it may contribute to novel approaches to genetic diagnosis and counseling of families with DA1.
背景
远端关节挛缩症（DA）是继发于关节和肌肉功能缺陷的最常见先天性肢体畸形。DA1是最常被描述的DA形式之一。DA1的特征包括双侧对称的握拳、手指重叠、屈曲指、手指尺侧偏斜以及诸如马蹄内翻足等位置性足部畸形。先前的研究表明，[基因名称1]和[基因名称2]的突变可能导致DA1。
材料与方法
本研究调查了8个DA1家庭/患者和1例DA2B患者，测定了[基因名称1]和[基因名称2]的序列，并通过多序列比对和突变的生物信息学预测检测突变。
结果
我们在一个没有[基因名称1]和[基因名称2]基因变异的DA1家庭中鉴定出[基因名称1]的一个新的错义突变（c.463G>A；p.A155T）。
结论
[基因名称1]的突变（c.463G>A；p.A155T）导致了该家庭的DA1。该突变的鉴定扩展了已知的[基因名称1]突变谱，可能有助于为DA1家庭的遗传诊断和咨询提供新方法。
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