Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
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中国神经肌肉中心16例线状肌病患者临床病理特征及突变谱
DOI：
10.1007/s13760-020-01542-9
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发表时间：
2022-06
影响因子：
2.7
通讯作者：
Wang, HuiFang
中科院分区：
文献类型：
--
作者：
Yin, Xi;Pu, Chuanqiang;Wang, Zhenfu;Li, Ke;Wang, HuiFang
线状肌病（NM）是一种高度异质性的先天性肌病，其特征是肌纤维细胞质中存在杆状物。对16例有特征性病理诊断的线状体肌病患者的标本进行全外显子测序。对病例的临床病理及遗传学特征进行系统分析。根据ENMC分类，8例为典型的先天性亚型，6例为儿童/青少年发病亚型，2例为成人发病亚型。在组织学检查中，在改良的gömöri三色染色（MGT）下发现了特征性的紫色杆。电镜下见粘膜下层及细胞核内高电子密度线状体，9例（9/16）检出致病性突变，其中NEB基因突变最多（6例，66.7%），2例检出KBTBD 13基因突变，1例检出ACTA 1基因突变。Nemaline myopathy是一种具有高度临床病理和遗传异质性的先天性肌病，NEB基因突变是中国NM患者最常见的突变，其中剪接改变c.21522 + 3A> G是热点突变。
Nemaline myopathy (NM) is a congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. The samples of 16 nemaline myopathy patients diagnosed by characteristically pathological features went through whole exon sequencing. Clinico-pathological and genetic features of the cases were systematically analyzed. According to the classification of nemaline myopathy by ENMC, 8 cases are typical congenital subtype, 6 cases are childhood/juvenile onset subtype and 2 case are adult onset subtype. In histological findings, characteristic purple-colored rods are discovered under modified gömöri trichrome staining (MGT). Electron microscopy revealed the presence of high electron-dense nemaline bodies around the submucosa and the nucleus nine patients (9/16 56.3%) were detected pathogenic causative mutations, among whom mutations in theNEBgene were the most frequent (6 patients, 66.7%).KBTBD13gene mutation was discovered in two patients andACTA1gene mutation was discovered in 1 patient. Nemaline myopathy is a congenital myopathy with highly clinico-pathological and genetic heterogeneity.NEBgene mutation is the most common mutation, in which splicing change c.21522 +3A > G is hotspot mutation in Chinese NM patients.
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DOI：
10.1073/pnas.1804726115
发表时间：
2018-10-09
影响因子：
11.1
作者：
Kiss B;Lee EJ;Ma W;Li FW;Tonino P;Mijailovich SM;Irving TC;Granzier HL
通讯作者：
Granzier HL
影响因子：
2.7
作者：
Sewry, Caroline A.;Laitila, Jenni M.;Wallgren-Pettersson, Carina
通讯作者：
Wallgren-Pettersson, Carina
影响因子：
11.2
作者：
Ryan, MM;Schnell, C;North, KN
通讯作者：
North, KN
影响因子：
5.2
作者：
Donner, K;Sandbacka, M;Pelin, K
通讯作者：
Pelin, K
影响因子：
11.2
作者：
Joureau B;de Winter JM;Conijn S;Bogaards SJP;Kovacevic I;Kalganov A;Persson M;Lindqvist J;Stienen GJM;Irving TC;Ma W;Yuen M;Clarke NF;Rassier DE;Malfatti E;Romero NB;Beggs AH;Ottenheijm CAC
通讯作者：
Ottenheijm CAC