Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
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SPEG基因突变致中心核肌病一例临床及遗传学分析一例报告及文献复习
DOI：
10.1186/s12887-021-02656-6
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发表时间：
2021-04-29
期刊：
影响因子：
2.4
通讯作者：
Chang X
中科院分区：
文献类型：
--
作者：
Zhang G;Xu M;Huang T;Lin W;Chen J;Chen W;Chang X
研究背景中枢性肌病（CNM）是先天性肌病（CM）的一个亚型，是一组临床和遗传异质性的肌肉疾病。自从发现SPEG基因和致病变异体以来，只有少数额外的patients had been reported.Case presentationThe child，一名13岁的女性，从童年起运动发育迟缓，双下肢无力10年，步态摇摆，和一个积极的高尔征。双下肢远端肌力IV级。肌电图显示肌源性损害和肌电图改变。她11岁的妹妹也有类似的肌无力表型。基因测序显示，姐妹篇俩均存在SPEG复合杂合突变，突变位点为c.3715 + 4C > T和c.3588delC，均来源于双亲。这些变异位点以前没有报道过。肌肉活检显示肌纤维分布于细胞中央，I型肌纤维直径略小于II型肌纤维，I型肌纤维病理占优势，符合中枢性肌病的病理改变。结论SPEG基因不同位点突变引起的CNM患者临床表型也不同。在这种情况下，没有心肌病。本研究扩大了CNM病例数和SPEG基因突变谱，为产前诊断和遗传咨询提供参考。
BackgroundCentronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported.Case presentationThe child, a 13-year-old female, had delayed motor development since childhood, weakness of both lower extremities for 10 years, gait swinging, and a positive Gower sign. Her distal muscle strength of both lower extremities was grade IV. The electromyography showed myogenic damage and electromyographic changes. Her 11-year-old sister had a similar muscle weakness phenotype. Gene sequencing revealed that both sisters had SPEG compound heterozygous mutations, and the mutation sites were c.3715 + 4C > T and c.3588delC, which were derived from their parents. These variant sites have not been reported before. The muscle biopsy showed the nucleic (> 20% of fibers) were located in the center of the cell, the average diameter of type I myofibers was slightly smaller than that of type II myofibers, and the pathology of type I myofibers was dominant, which agreed with the pathological changes of centronuclear myopathy.ConclusionsThe clinical phenotypes of CNM patients caused by mutations at different sites of the SPEG gene are also different. In this case, there was no cardiomyopathy. This study expanded the number of CNM cases and the mutation spectrum of the SPEG gene to provide references for prenatal diagnosis and genetic counseling.
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影响因子：
3.3
作者：
Tasfaout H;Cowling BS;Laporte J
通讯作者：
Laporte J
新的SPEG变异在中国引起中心核肌病
影响因子：
2.7
作者：
Tang, Jia;Ma, Wei;Luo, Liangping
通讯作者：
Luo, Liangping
DOI：
10.1002/ajmg.a.38418
发表时间：
2018-04
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Dowling JJ;D Gonorazky H;Cohn RD;Campbell C
通讯作者：
Campbell C
影响因子：
20.1
作者：
Quick AP;Wang Q;Philippen LE;Barreto-Torres G;Chiang DY;Beavers D;Wang G;Khalid M;Reynolds JO;Campbell HM;Showell J;McCauley MD;Scholten A;Wehrens XH
通讯作者：
Wehrens XH
影响因子：
2.8
作者：
Jungbluth, H;Sewry, CA;Muntoni, F
通讯作者：
Muntoni, F