Regal L, van Hasselt P M, Foulquier F, Cuppen I, Prinsen Hcmt, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J
Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar.
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality. Analysis of revealed compound heterozygosity involving three novel mutations: the splice site mutation c.45-2A > T, the c.36dupG duplication, and the missense mutation c.479G > T (p.G160V) that was present in both.
我们报告了两名患有ALG11-CDG的新病例。其表型特征为严重的精神运动发育障碍、进行性小头畸形、感音神经性听力丧失、伴有爆发抑制脑电图的难治性癫痫、脑萎缩（其中一例伴有神经元异位）以及早期致死性。分析发现存在复合杂合性，涉及三个新突变：剪接位点突变c.45-2A>T、c.36dupG重复以及两者均存在的错义突变c.479G>T（p.G160V）。
