■肢带肌营养不良(LGMD)是临床和遗传上异质性的肌肉疾病。我们旨在分享包含LGMD相关基因的NGS基因组的诊断产量以及我们对LGMD的经验。
■在2019年2月至2022年10月之间,对怀疑LGMD的患者及其亲属进行了人口统计方面的审查。临床,和个体遗传数据,症状发作的年龄,性别,临床特征,LGMD类型,心脏受累,肌肉活检结果,家族史,和血缘关系.我们的NGS基因组由ANO5、CAPN3、CAV3、DAG1、DES、DNAJB6DYSF,FKTN,FLNC,FRKP,GAA,GMPPB,HNRNPDL,ISPD,LIMS2,LMNA,MYOT,PLEC,POMGNT1,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3、TRAPPC11、TRIM32和TTN基因。
■诊断率为61.1%(11/18)。12名(80%)LGMD患者为男性,3名(20%)为女性。中位年龄为15.9岁(范围,1.5-39)年。我们的患者集合是从具有以下变体的患者中得出的:LGMDR1(n=6;40%),LGMDR2(n=4;26.6%),LGMDR3(n=4;26.6%),LGMDR12(n=1;6.7%)。
■本研究表明,NGS小组在LGMD的诊断中具有很高的成功率,有助于早期诊断。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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%).
UNASSIGNED: The present study showed that the NGS panel has a high success rate in the diagnosis of LGMD and contributes to early diagnosis.