Matalonga Leslie, Bravo Miren, Serra-Peinado Carla, García-Pelegrí Elisabeth, Ugarteburu Olatz, Vidal Silvia, Llambrich Maria, Quintana Ester, Fuster-Jorge Pedro, Gonzalez-Bravo Maria Nieves, Beltran Sergi, Dopazo Joaquin, Garcia-Garcia Francisco, Foulquier François, Matthijs Gert, Mills Philippa, Ribes Antonia, Egea Gustavo, Briones Paz, Tort Frederic, Girós Marisa
Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
Department Biomedicina, Universitat de Barcelona and Institut d'Investigacions Mèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26.
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids. Mutations in genes involved in the homeostasis of the endoplasmic reticulum (ER), the Golgi apparatus (GA), and the vesicular trafficking from the ER to the ER-Golgi intermediate compartment (ERGIC) have been found to be associated with CDG. Here, we report a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the GA due to mutations in TRAPPC11, a subunit of the TRAPPIII complex. TRAPPIII is implicated in the anterograde transport from the ER to the ERGIC as well as in the vesicle export from the GA. This report expands the spectrum of genetic alterations associated with CDG, providing new insights for the diagnosis and the understanding of the physiopathological mechanisms underlying glycosylation disorders.
先天性糖基化障碍（CDG）是一组由蛋白质和/或脂质异常糖基化引起的异质性且数量迅速增加的疾病。已发现参与内质网（ER）、高尔基体（GA）稳态以及从ER到ER-高尔基体中间腔室（ERGIC）的囊泡运输的基因突变与CDG有关。在此，我们报告一名患者，由于TRAPPIII复合物的一个亚基TRAPPC11发生突变，导致其N-糖基化和O-糖基化均存在缺陷，并伴有GA中囊泡运输延迟。TRAPPIII参与从ER到ERGIC的顺向运输以及从GA的囊泡输出。本报告扩展了与CDG相关的基因改变谱，为糖基化障碍的诊断和理解其生理病理机制提供了新的见解。
