Department of Clinical Laboratory, Linyi People's Hospital, Shandong University, Linyi, China.
Department of Central Laboratory, Linyi People's Hospital, Shandong University, Linyi, China.
Int J Dev Neurosci. 2023 Feb;83(1):23-30. doi: 10.1002/jdn.10233. Epub 2022 Nov 7.
Mutations in protein O-mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker-Warburg syndrome (WWS) and milder limb-girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to investigate the genetic causes in patients with LGMD2N.
Three patients diagnosed with mild limb-girdle muscular dystrophy were recruited. The genetically pathogenic variant was identified by clinical exome sequencing, and healthy controls were verified by Sanger sequencing.
Novel compound heterozygous mutations c.800A > G and c.1074_1075delinsAT of POMT2 were revealed in one affected individual by clinical exome sequencing. There was no report of these two variants and predicted to be highly damaging to the function of the POMT2.
The novel variants extend the spectrum of POMT2 mutations, which promotes the prognostic value of testing for POMT2 mutations in patients with LGMD2N.
蛋白-O-甘露糖基转移酶 2（POMT2）（MIM#607439）的突变已在严重先天性肌营养不良症中被发现，如 Walker-Warburg 综合征（WWS）和轻度肢带型肌营养不良 2N 型（LGMD2N）。本研究旨在探讨 LGMD2N 患者的遗传病因。
招募了 3 名被诊断为轻度肢带型肌营养不良的患者。通过临床外显子组测序鉴定出致病性基因突变体，并用 Sanger 测序对健康对照进行验证。
通过临床外显子组测序在一名受累个体中发现了 POMT2 的新型复合杂合突变 c.800A>G 和 c.1074_1075delinsAT。这两种变异均无报道，预测对 POMT2 功能有高度破坏性。
这些新的变异扩展了 POMT2 突变谱，这提高了在 LGMD2N 患者中检测 POMT2 突变的预后价值。
