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病例报告：探索LGMD R27的临床谱：来自一个该基因纯合致病变异病例研究的见解

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the gene.

作者信息

Nikitin Sergey, Melnik Evgeniya, Sharkova Inna, Murtazina Aysylu, Shchagina Olga, Zabnenkova Victoriia, Tsargush Vadim, Dadali Elena, Kutsev Sergey

机构信息

Research Center for Medical Genetics, Moscow, Russia.

Center of Aviation Medicine, Moscow, Russia.

出版信息

Front Pediatr. 2024 Nov 22;12:1414465. doi: 10.3389/fped.2024.1414465. eCollection 2024.

DOI:10.3389/fped.2024.1414465
PMID:39649397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11620864/
Abstract

Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to biallelic pathogenic variants in the gene, was recently described, and to date, only 27 cases has been published in three reports. Here, we present two siblings exhibiting a severe clinical phenotype of LGMD R27, associated with a novel homozygous frameshift variant [c.3467_3470dup, p.(Pro1158AlafsTer22)] results in truncated protein with 21 amino acid substitution within the cytoplasmic domain of the Jagged2 protein.

摘要

肢带型肌营养不良症（LGMD）是一组异质性的遗传性疾病，其特征为进行性肌肉无力和萎缩，主要影响骨盆带和肩胛带的肌肉。LGMD R27与该基因的双等位基因致病性变异有关，最近被描述，迄今为止，仅有3篇报告发表了27例病例。在此，我们报告了两名患有严重LGMD R27临床表型的同胞，他们携带一种新的纯合移码变异[c.3467_3470dup，p.(Pro1158AlafsTer22)]，该变异导致截短的蛋白质，在Jagged2蛋白的胞质结构域内有21个氨基酸替代。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/e7a03783ce8a/fped-12-1414465-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/e2cea6fb4399/fped-12-1414465-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/526da72b802f/fped-12-1414465-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/b794df601d00/fped-12-1414465-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/e7a03783ce8a/fped-12-1414465-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/e2cea6fb4399/fped-12-1414465-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/526da72b802f/fped-12-1414465-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/b794df601d00/fped-12-1414465-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce0c/11620864/e7a03783ce8a/fped-12-1414465-g004.jpg

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本文引用的文献

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Neuromuscul Disord. 2024 Sep;42:36-42. doi: 10.1016/j.nmd.2024.07.003. Epub 2024 Jul 6.
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Exome sequencing in genuine empty follicle syndrome: Novel candidate genes.真卵泡缺失综合征的外显子组测序：新的候选基因。
Eur J Obstet Gynecol Reprod Biol. 2024 Jun;297:221-226. doi: 10.1016/j.ejogrb.2024.04.029. Epub 2024 Apr 23.
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The Notch signaling pathway in skeletal muscle health and disease.
Notch 信号通路在骨骼肌健康和疾病中的作用。
Muscle Nerve. 2022 Nov;66(5):530-544. doi: 10.1002/mus.27684. Epub 2022 Aug 15.
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A form of muscular dystrophy associated with pathogenic variants in JAG2.与 JAG2 中的致病性变异相关的一种肌肉萎缩症形式。
Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15.
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The role of Notch signaling in the mammalian ovary.Notch信号通路在哺乳动物卵巢中的作用。
Reproduction. 2017 Jun;153(6):R187-R204. doi: 10.1530/REP-16-0689. Epub 2017 Mar 10.
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Roles of Notch1 Signaling in Regulating Satellite Cell Fates Choices and Postnatal Skeletal Myogenesis.Notch1信号通路在调控卫星细胞命运选择及出生后骨骼肌生成中的作用
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
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