Algahtani Hussein, Shirah Bader, Algahtani Raghad, Al-Qahtani Mohammad H, Abdulkareem Angham Abdulrahman, Naseer Muhammad Imran
King Abdulaziz Medical City / King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Intractable Rare Dis Res. 2019 May;8(2):142-145. doi: 10.5582/irdr.2019.01052.
Titin () is a large gene with 363 exons that encodes a large abundant protein (longest known polypeptide in nature) that is expressed in cardiac and skeletal muscles. has an important role in the sarcomere organization, assembly of muscles, transmission of the force at the Z-line, passive myocyte stiffness, and resting tension maintenance in the I-band region. Mutation in extreme C terminus of , situated at the end of M-band of the in chromosome 2q31, results in tibial muscular dystrophy (TMD), also called Udd Distal Myopathy, which is an autosomal dominant distal myopathy. In this article, we report a novel mutation in gene in a Saudi patient with bilateral facial weakness and scapular winging. This report adds to the literature a heterozygous missense variant c.85652C>G, p.(Pro28551Arg) in gene, which may be related to genes that cause the disease, but more case validation is needed. The novel mutation described in the present study widened the genetic spectrum of -associated diseases, which may benefit studies addressing this disease in the future.
肌联蛋白（）是一个拥有363个外显子的大基因，它编码一种大量存在的蛋白质（自然界中已知最长的多肽），在心肌和骨骼肌中表达。在肌节组织、肌肉组装、Z线处的力传递、心肌细胞被动僵硬度以及I带区域静息张力维持方面发挥着重要作用。位于2号染色体q31区域肌联蛋白M带末端的极端C末端发生突变，会导致胫骨肌营养不良（TMD），也称为乌德远端肌病，这是一种常染色体显性远端肌病。在本文中，我们报告了一名患有双侧面部无力和肩胛翼状畸形的沙特患者肌联蛋白基因中的一种新突变。本报告在文献中增加了肌联蛋白基因中的一个杂合错义变体c.85652C>G，p.（Pro28551Arg），其可能与致病基因有关，但需要更多病例验证。本研究中描述的新突变拓宽了与肌联蛋白相关疾病的遗传谱，这可能会有利于未来针对该疾病的研究。
