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Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.

作者信息

Wurm Donald, Hänsgen Andrea, Kim Yoo-Jin, Lindinger Angelika, Baghai Ali, Gortner Ludwig

机构信息

Department of Pediatrics and Neonatology, University Children's Hospital, Kirrbergerstrasse, Building 9, 66421, Homburg/Saar, Germany.

出版信息

Eur J Pediatr. 2007 Apr;166(4):377-8. doi: 10.1007/s00431-006-0240-y. Epub 2006 Aug 29.

DOI:10.1007/s00431-006-0240-y
PMID:16941129
Abstract
摘要

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1
Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.患有先天性糖基化障碍I型a型（由PMM2基因的两个新突变引起）的兄弟姐妹的早期致命病程：临床、分子和尸检结果
Eur J Pediatr. 2007 Apr;166(4):377-8. doi: 10.1007/s00431-006-0240-y. Epub 2006 Aug 29.
2
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.在一对患有先天性糖基化障碍I型a（CDG-Ia）的同胞中，临床表型与糖蛋白表型相关。
Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446.
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Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.斯堪的纳维亚CDG-Ia患者：基因型/表型相关性及奠基者突变的地理起源
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Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.磷酸甘露糖变位酶2（PMM2）突变在轻度受影响的先天性糖基化障碍Ia型患者中的功能意义。
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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.ALG6中常见的轻度突变可能会加重由磷酸甘露糖变位酶缺乏引起的先天性糖基化障碍Ia型（CDG-Ia）患者的临床严重程度。
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The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.在普通人群中分析变异体表明， 对错义突变具有极强的耐受性，并且 PMM2-CDG 的诊断可以受益于修饰因子的鉴定。
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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.96 例 PMM2-CDG（磷酸甘露糖变位酶 2-先天性糖基化障碍）患者的临床、实验室和分子发现及长期随访数据及文献复习。
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[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].先天性糖基化代谢异常Ia型（CDG Ia）——诊断不足的疾病？
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A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.磷酸甘露糖变位酶2缺陷型先天性糖基化异常（PMM2-CDG）中基因型-表型相关性的全面更新：来自分子和结构分析的见解
Orphanet J Rare Dis. 2025 Apr 30;20(1):207. doi: 10.1186/s13023-025-03669-5.
2
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.磷酸甘露糖变位酶 2 缺乏症伴低血糖患者的高胰岛素血症可能报道不足。
J Clin Res Pediatr Endocrinol. 2022 Aug 25;14(3):275-286. doi: 10.4274/jcrpe.galenos.2022.2021-10-14. Epub 2022 Mar 21.
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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

本文引用的文献

1
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.1a型先天性糖基化障碍的不寻常表现：先天性持续性血小板减少症、肥厚型心肌病以及因明显外周水肿呈现的水肿样外观。
Eur J Pediatr. 2005 Apr;164(4):223-6. doi: 10.1007/s00431-004-1611-x. Epub 2005 Jan 12.
2
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.先天性糖基化障碍：分子基础、临床表现及特异性治疗的综述
Eur J Pediatr. 2003 Jun;162(6):359-79. doi: 10.1007/s00431-002-1136-0. Epub 2003 Mar 15.
3
肝脏在先天性糖基化和去糖基化紊乱中的表现
Front Pediatr. 2021 Jul 5;9:696918. doi: 10.3389/fped.2021.696918. eCollection 2021.
Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
高胰岛素血症性低血糖症——先天性糖基化障碍Ia型（磷酸甘露糖变位酶缺乏症）患者的主要症状。
J Inherit Metab Dis. 2001 Dec;24(8):858-62. doi: 10.1023/a:1013944308881.
4
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.糖基化先天性疾病 I 的广泛临床表型：26 例病例系列
J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14.
5
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).导致糖基化先天性疾病Ia型（CDG-Ia）的磷酸甘露糖变位酶2（PMM2）突变。
Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y.