Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II
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DOI：
10.1016/j.ymgme.2016.12.014
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发表时间：
2017-03-01
影响因子：
3.8
通讯作者：
Mercimek-Mahmutoglu, Saadet
中科院分区：
文献类型：
--
作者：
Al Teneiji, Amal;Bruun, Theodora Uj.;Mercimek-Mahmutoglu, Saadet
背景：先天性糖基化障碍（CDG）是一种先天性糖代谢缺陷。它们是多系统疾病。转铁蛋白同种型的分析用作CDG I型（CDG-I）和II型（CDG-II）的筛选试验。我们进行了一项回顾性队列研究，以确定谱的表型和基因型和患病率的不同亚型的CDG-I和CDG-II.Material和方法：所有患者CDG-I和CDG-II评估在我们机构的代谢遗传学诊所。审查了电子和纸质患者病历。我们建立了高效液相色谱转铁蛋白等电聚焦（TIEF）方法来测量转铁蛋白异构体在我们的机构。结果：15例患者中PMM 2-CDG 9例，非PMM 2-CDG 6例（ALG 3-CDG 1例，ALG 9-CDG 1例，ALG 11-CDG 2例，MPDU 1-CDG 1例，ATP 6V 0A 2-CDG 1例）。所有PMM 2-CDG患者和5例非PMM 2-CDG患者的TIEF均异常，提示CDG-I或CDG-II型。在所有患者中，分子诊断证实了单基因检测，有针对性的CDG基因的下一代测序，或通过全外显子组sequencing.Conclusion：我们报告了15个新的CDG-I和CDG-II患者。全外显子组测序可能会识别更多TIEF正常的患者，并扩大CDG-I和CDG-II的表型谱。皇冠版权所有（C）2017由Elsevier Inc. All rights reserved.
Background: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II.Material and methods: All patients with CDG-I and CDG-II evaluated in our institution's Metabolic Genetics Clinics were included. Electronic and paper patient charts were reviewed. We set-up a high performance liquid chromatography transferrin isoelectric focusing (TIEF) method to measure transferrin isoforms in our Institution. We reviewed the literature for the rare CDG-I and CDG-II subtypes seen in our Institution.Results: Fifteen patients were included: 9 with PMM2-CDG and 6 with non-PMM2-CDG (one ALG3-CDG, one ALG9-CDG, two ALG11-CDG, one MPDU1-CDG and one ATP6V0A2-CDG). All patients with PMM2-CDG and 5 patients with non-PMM2-CDG showed abnormal TIEF suggestive of CDG-I or CDG-II pattern. In all patients, molecular diagnosis was confirmed either by single gene testing, targeted next generation sequencing for CDG genes, or by whole exome sequencing.Conclusion: We report 15 new patients with CDG-I and CDG-II. Whole exome sequencing will likely identify more patients with normal TIEF and expand the phenotypic spectrum of CDG-I and CDG-II. Crown Copyright (C) 2017 Published by Elsevier Inc. All rights reserved.