通过外显子组测序鉴定出首个具有墨西哥梅斯蒂索血统的PMM2-CDG个体。
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
作者信息
González-Domínguez C A, Raya-Trigueros A, Manrique-Hernández S, González Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes L L, Jiménez-Olivares M, Dehesa-Caballero C, Alaez-Versón C, Martínez-Duncker I
机构信息
Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca 62209, Mexico.
Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca 62210, Mexico.
出版信息
Mol Genet Metab Rep. 2020 Aug 18;25:100637. doi: 10.1016/j.ymgmr.2020.100637. eCollection 2020 Dec.
Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in c.422G > A (p.R141H) and c.395 T > C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort.
先天性糖基化障碍（CDG）在拉丁美洲鲜有报道。我们在此报告一名患有多系统综合征的墨西哥混血儿，该综合征包括神经系统受累以及I型转铁蛋白（Tf）等电聚焦（IEF）模式。临床外显子组测序（CES）显示，在编码磷酸甘露糖变位酶2（PMM2）的基因中存在已知的复合错义变异，即c.422G > A（p.R141H）和c.395 T > C（p.I132T）。PMM2催化甘露糖-6-磷酸转化为甘露糖-1-磷酸，这是糖基化反应供体底物GDP-甘露糖和多萜醇磷酸甘露糖合成所必需的。这是第三例报道的墨西哥CDG患者，也是首例PMM2-CDG患者。PMM2最近被确定为墨西哥人群队列中携带致病变异的前10个基因之一。
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