Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.,Molecular Genetics & Genomic Medicine

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Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-20 , DOI: 10.1002/mgg3.1460
Kelly A Rich ₁ , Tia Moscarello ₂ , Carly Siskind ₃ , Guy Brock ₄ , Christopher A Tan ₅ , Matteo Vatta ₅ , Thomas L Winder ₅ , Bakri Elsheikh ₁ , Leah Vicini ₁ , Brianna Tucker ₂ , Marilly Palettas ₄ , Ray E Hershberger ₁ , John T Kissel ₁ , Ana Morales _{1,

5} , Jennifer Roggenbuck ₁

Affiliation

Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of the spectrum of disease, interpretation of TTN variants is often difficult for laboratories and clinicians. Currently, cardiomyopathy is associated with heterozygous A‐band TTN variants, whereas skeletal myopathy is largely associated with homozygous or compound heterozygous TTN variants. Recent reports show pathogenic variants in TTN may result in a broader phenotypic spectrum than previously recognized.

中文翻译：

影响 A 带的新型杂合截断肌联蛋白变体与心肌病和肌病/肌肉营养不良有关。

在骨骼肌病或心肌病的遗传评估中经常发现TTN的变异。然而，由于TTN变异在普通人群中的高频率、不完全外显率以及对疾病谱的了解有限，实验室和临床医生通常难以解释TTN变异。目前，心肌病与杂合 A 波段TTN变异有关，而骨骼肌病主要与纯合或复合杂合TTN变异有关。最近的报告显示，TTN中的致病变异可能导致比以前认识的更广泛的表型谱。

更新日期：2020-10-12

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