Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.

IF 1.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Irish Journal of Medical Science Pub Date : 2024-12-01 Epub Date: 2024-08-23 DOI:10.1007/s11845-024-03792-5
Yasmina Rahmuni, Youssef El Kadiri, Jaber Lyahyai, Abdelaziz Sefiani, Ilham Ratbi
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Abstract

Background: Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of pelvic and/or scapular girdle muscles and calf hypertrophy, with a wide range of clinical inter- and intra-familial clinical variability.

Aims: Our report extends the molecular spectrum of SGCA gene with the identification of variant disease causing and will help for better management of patients and genetic counseling of families.

Methods: In our study, seven unrelated families presented a clinical and paraclinical picture consistent with alpha-sarcoglycanopathy. A molecular study using Next-Generation Sequencing (NGS) was carried out on them.

Results: Six different homozygous variants of the SGCA gene were identified in the patients analyzed, including four previously reported variants and two novel variants predicted to be deleterious by the prediction tools.

Conclusions: Our results expand the spectrum of variants in Moroccan patients with sarcoglycanopathy, specifically LGMDR3, most importantly as this form is not common in the Moroccan population.

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通过 NGS 对七个摩洛哥家庭中的α-肌糖蛋白病进行分子诊断,并报告两种新型变异体。
背景:肢腰肌营养不良症在临床和遗传上都是一类异质性神经肌肉疾病。α-肌糖蛋白缺乏性肢腰肌营养不良症或 LGMD R3 α-肌糖蛋白相关症是常染色体隐性肌糖蛋白病的一种亚型,由位于 17q21.33 的α-肌糖蛋白基因(SGCA)变异引起。目的:我们的报告扩展了 SGCA 基因的分子谱,确定了变异致病基因,这将有助于更好地管理患者和为家庭提供遗传咨询:在我们的研究中,7 个无亲属关系的家庭出现了与α-肉毒杆菌病一致的临床和辅助临床症状。我们使用下一代测序技术(NGS)对他们进行了分子研究:结果:在分析的患者中发现了 6 个不同的 SGCA 基因同源变异体,包括 4 个以前报道过的变异体和 2 个预测工具预测为有害的新型变异体:我们的研究结果扩大了摩洛哥肌酸激酶病患者的变异范围,特别是 LGMDR3,最重要的是,这种形式的变异在摩洛哥人群中并不常见。
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来源期刊
Irish Journal of Medical Science
Irish Journal of Medical Science 医学-医学:内科
CiteScore
3.70
自引率
4.80%
发文量
357
审稿时长
4-8 weeks
期刊介绍: The Irish Journal of Medical Science is the official organ of the Royal Academy of Medicine in Ireland. Established in 1832, this quarterly journal is a contribution to medical science and an ideal forum for the younger medical/scientific professional to enter world literature and an ideal launching platform now, as in the past, for many a young research worker. The primary role of both the Academy and IJMS is that of providing a forum for the exchange of scientific information and to promote academic discussion, so essential to scientific progress.
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