LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues
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DOI：
10.1111/cge.12561
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发表时间：
2015-12-01
影响因子：
3.5
通讯作者：
Dyment, D. A.
中科院分区：
文献类型：
--
作者：
Chardon, Jodi Warman;Smith, A. C.;Dyment, D. A.
肢带型肌营养不良症(LGMD)是一组导致进行性肌肉退化的异质性遗传性疾病，常伴有心脏并发症。我们报告两个成年兄弟姐妹，从童年开始虚弱，逐渐发展为严重的四肢瘫痪，并伴有三角舌和双室心功能不全的额外特征。整个外显子组测序发现了复合杂合性错义突变，这些突变被预测为LIMS2的致病基因。骨骼肌活检显示LIMS2免疫染色中断。这是首次报道LIMS2突变并导致与LGMD相关的整合素连接激酶(ILK)-LIMS-Parvin复合体的破坏。
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations that are predicted to be pathogenic in LIMS2. Biopsy of skeletal muscle demonstrated disrupted immunostaining of LIMS2. This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase (ILK)-LIMS-parvin complex associated with LGMD.