利用新一代测序板对四肢肌萎缩症进行分子诊断

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-10-16 DOI:10.1159/000533976

Gamze Sarıkaya Uzan, Ceren Yılmaz Uzman, Tayfun Çinleti, Çağatay Günay, Ayfer Ülgenalp, Semra Hiz Kurul, Uluç Yiş

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引用次数: 0

摘要

& lt; b> & lt; i>简介:& lt; / i> & lt; / b>肢带状肌营养不良症(LGMDs)是临床上和遗传上异质性的肌肉疾病。我们的目的是分享包含LGMD相关基因的NGS基因面板的诊断产量和我们在LGMD方面的经验。& lt; b> & lt; i>方法:& lt; / i> & lt; / b>在2019年2月至2022年10月期间，对疑似LGMD患者及其亲属进行人口统计学、临床和个人遗传数据、症状发病年龄、性别、临床特征、LGMD类型、心脏受损伤、肌肉活检结果、家族史和血缘关系等方面的调查。我们的NGS基因面板包括ANO5、CAPN3、CAV3、DAG1、DES、DNAJB6、DYSF、FKTN、FLNC、FRKP、GAA、GMPPB、HNRNPDL、ISPD、LIMS2、LMNA、MYOT、PLEC、POMGNT1、POMK、POMT1、POMT2、SGCA、SGCB、SGCD、SGCG、TCAP、TNPO3、TRAPPC11、TRIM32、和& lt; i> TTN基因。& lt; b> & lt; i>结果:& lt; / i> & lt; / b>诊断率为61.1%(11/18)。LGMD患者男性12例(80%)，女性3例(20%)。中位年龄为15.9岁(1.5-39岁)。我们的患者群体是从具有以下变体的患者中抽取的:LGMDR1 (n= 6;40%)， LGMDR2 (n= 4;26.6%)， LGMDR3 (n= 4;26.6%)， LGMDR12 (n= 1;6.7%)。& lt; b> & lt; i>结论:& lt; / i> & lt; / b>本研究表明，NGS组对LGMD的诊断成功率高，有助于早期诊断。

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Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD. Methods: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity. Our NGS gene panel consisted of ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKTN, FLNC, FRKP, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, and TTN genes. Results: The diagnosis rate was 61.1% (11/18). Twelve (80%) patients with LGMD were male and three (20%) were female. The median age was 15.9 (range, 1.5–39) years. Our patient collective was drawn up out of patients with the following variants: LGMDR1 (n = 6; 40%), LGMDR2 (n = 4; 26.6%), LGMDR3 (n = 4; 26.6%), and LGMDR12 (n = 1; 6.7%). Conclusion: The present study showed that the NGS panel has a high success rate in the diagnosis of LGMD and contributes to early diagnosis.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.