Barone Rita, Sturiale Luisa, Sofia Vito, Ignoto Antonella, Fiumara Agata, Sorge Giovanni, Garozzo Domenico, Zappia Mario
Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy.
Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446.
Congenital disorder of glycosylation (CDG) type Ia (PMM2 mutations) is the most common genetic disorder of protein N-glycosylation. The wide clinical spectrum with mild to severe impairment of neurological function and extensive allelic heterogeneity hamper phenotype-genotype comparison. We report on two male adult siblings with the PMM2 mutations c. 385G > A (p.V129M) and c. 422G > A (p.R141H) and partially different clinical phenotype. Patient 2 has a more severe degree of neurological and systemic involvement and a more pronounced decrease in levels of serum glycoproteins. MALDI-TOF mass spectrometry of serum transferrin and alpha-1-antitrypsin shows more pronounced glycosylation defects in the more severely affected patient. Glycoproteomic analysis may reveal differences in CDG-Ia patients with different disease severity and might endorse clinical characterization of CDG-Ia patients.
先天性糖基化障碍（CDG）Ia型（PMM2突变）是最常见的蛋白质N-糖基化遗传性疾病。其广泛的临床谱，伴有从轻度到重度的神经功能损害以及广泛的等位基因异质性，妨碍了表型与基因型的比较。我们报告了两名成年男性同胞，他们携带PMM2突变c. 385G > A（p.V129M）和c. 422G > A（p.R141H），且具有部分不同的临床表型。患者2有更严重程度的神经和全身受累，血清糖蛋白水平下降更明显。血清转铁蛋白和α-1-抗胰蛋白酶的基质辅助激光解吸电离飞行时间质谱（MALDI-TOF）显示，在病情更严重的患者中糖基化缺陷更明显。糖蛋白质组学分析可能揭示不同疾病严重程度的CDG-Ia患者之间的差异，并可能支持CDG-Ia患者的临床特征描述。
