文章基本信息

标题：Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
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作者：C.A. González-Domínguez ; C.E. Villarroel ; M. Rodríguez-Morales 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2021
卷号：28
页码：100781
DOI：10.1016/j.ymgmr.2021.100781
出版社：Elsevier B.V.
摘要：We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed compound heterozygous variants in PMM2, the encoding gene for the phosphomannomutase 2 (PMM2). This enzyme 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. The identified variants were c.422G>A (R141H) and c.178G>T, the former being the most frequent PMM2 pathogenic mutation and the latter a previously uncharacterized variant restricted to the Latino population with conflicting interpretations of pathogenicity and that we here report causes leaky non-functional alternative splicing (p.V60Cfs*3).