<i>DPAGT1</i>基因變異相關先天性糖基化障礙一例并文獻復習_Journal of Epilepsy

Authors：

鄭小紅 , 范佛養 , 周有峰 ,  胡春輝

福建醫科大學婦兒臨床醫學院·福建省兒童醫院神經內科（福州 350014）;

Corresponding?author：

胡春輝, Email: huchunhui1989@126.com

Keywords：

糖基化障礙; 基因; 癲癇; 肌張力降低

DOI：

10.7507/2096-0247.202406002

Video：

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Citation： 鄭小紅, 范佛養, 周有峰, 胡春輝. DPAGT1基因變異相關先天性糖基化障礙一例并文獻復習. Journal of Epilepsy, 2024, 10(5): 454-458. doi: 10.7507/2096-0247.202406002 Copy

1.	Hyde LF, Kong Y, Zhao L, et al. A DPAGT1 missense variant causes degenerative retinopathy without myasthenic syndrome in mice. Int J Mol Sci, 2022, 923(19): 12005.
2.	Monticelli M, Francisco R, Brasil S, et al. Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective. Orphanet J Rare Dis, 2022, 3017(1): 303.
3.	Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr, 2003, 162(6): 359-379.
4.	Würde AE, Reunert J, Rust S, et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab, 2012, 105(4): 634-641.
5.	Yuste-Checa P, Vega AI, Martín-Higueras C, et al. DPAGT1-CDG: functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. PLoS One, 2017, 2912(6): e0179456.
6.	Wu X, Rush JS, Karaoglu D, et al. Deficiency of UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat, 2003, 22(2): 144-150.
7.	Vuillaumier-Barrot S, Diagnostic moléculaire des, anomalies congénitales de, et al. Molecular diagnosis of congenital disorders of glycosylation. Ann Biol Clin (Paris), 2005, 63(2): 135-143.
8.	Imtiaz F, Al-Mostafa A, Al-Hassnan ZN. Further delineation of the phenotype of congenital disorder of glycosylation DPAGT1-CDG (CDG-Ij) identified by homozygosity mapping. JIMD Rep, 2012, 2: 107-111.
9.	Carrera IA, Matthijs G, Perez B, et al. DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A, 2012, 158(8): 2027-2030.
10.	Timal S, Hoischen A, Lehle L, et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet, 2012, 121(19): 4151-4161.
11.	Iqbal Z, Shahzad M, Vissers LE, et al. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Eur J Hum Genet, 2013, 21(8): 844-849.
12.	Ganetzky R, Izumi K, Edmondson A, et al. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A, 2015, 167(10): 2411-2417.
13.	Ng BG, Underhill HR, Palm L, et al. DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients. JIMD Rep, 2019, 44: 85-92.
14.	Tabatabaei Z, Karbalaie KH, Habibzadeh P, et al. Pre-implantation genetic testing for monogenic disorders (PGT-m) in a family with a novel mutation in DPAGT1 gene. Cell J, 2021, 23(5): 593-597.
15.	?zsoy ?, Cinleti T, Günay ?, et al. DPAGT1-CDG: report of two new pediatric patients and brief review of the literature. Mol Syndromol, 2023, 14(4): 322-330.
16.	Tao H, Sun Y, Zhai J, et al. DPAGT1-CDG: recurrent fetal death. Birth Defects Res, 2023, 1115(13): 1185-1191.
17.	Reily C, Stewart TJ, Renfrow MB, et al. Glycosylation in health and disease. Nat Rev Nephrol, 2019, 15(6): 346-366.
18.	Cherepanova N, Shrimal S, Gilmore R. N-linked glycosylation and homeostasis of the endoplasmic reticulum. Curr Opin Cell Biol, 2016, 41: 57-65.
19.	Wang M, Kaufman RJ. Protein misfolding in the endoplasmic reticulum as a conduit to human disease. Nature, 2016, 529(7586): 326-335.
20.	Wilson MP, Matthijs G. The evolving genetic landscape of congenital disorders of glycosylation. Biochim Biophys Acta Gen Subj, 2021, 1865(11): 129976.
21.	Ondruskova N, Cechova A, Hansikova H, et al. Congenital disorders of glycosylation: Still "hot" in 2020. Biochim Biophys Acta Gen Subj, 2021, 1865(1): 129751.
22.	Sengupta PK, Bouchie MP, Kukuruzinska MA. N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway. J Biol Chem, 2010, 8285(41): 31164-31173.
23.	Park JH, Marquardt T. Treatment options in congenital disorders of glycosylation. Front Genet, 2021, 12: 735348.
24.	Boyer SW, Johnsen C, Morava E. Nutrition interventions in congenital disorders of glycosylation. Trends Mol Med, 2022, 28(6): 463-481.
25.	Péanne R, de Lonlay P, Foulquier F, et al. Congenital disorders of glycosylation (CDG): quo vadis? Eur J Med Genet, 2018, 61(11): 643-663.
26.	Dalton HM, Viswanatha R, Brathwaite R Jr, et al. A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress. PLoS Genet, 2022, 2718(9): 1010430.

1. Hyde LF, Kong Y, Zhao L, et al. A DPAGT1 missense variant causes degenerative retinopathy without myasthenic syndrome in mice. Int J Mol Sci, 2022, 923(19): 12005.
2. Monticelli M, Francisco R, Brasil S, et al. Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective. Orphanet J Rare Dis, 2022, 3017(1): 303.
3. Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr, 2003, 162(6): 359-379.
4. Würde AE, Reunert J, Rust S, et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab, 2012, 105(4): 634-641.
5. Yuste-Checa P, Vega AI, Martín-Higueras C, et al. DPAGT1-CDG: functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. PLoS One, 2017, 2912(6): e0179456.
6. Wu X, Rush JS, Karaoglu D, et al. Deficiency of UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat, 2003, 22(2): 144-150.
7. Vuillaumier-Barrot S, Diagnostic moléculaire des, anomalies congénitales de, et al. Molecular diagnosis of congenital disorders of glycosylation. Ann Biol Clin (Paris), 2005, 63(2): 135-143.
8. Imtiaz F, Al-Mostafa A, Al-Hassnan ZN. Further delineation of the phenotype of congenital disorder of glycosylation DPAGT1-CDG (CDG-Ij) identified by homozygosity mapping. JIMD Rep, 2012, 2: 107-111.
9. Carrera IA, Matthijs G, Perez B, et al. DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A, 2012, 158(8): 2027-2030.
10. Timal S, Hoischen A, Lehle L, et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet, 2012, 121(19): 4151-4161.
11. Iqbal Z, Shahzad M, Vissers LE, et al. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Eur J Hum Genet, 2013, 21(8): 844-849.
12. Ganetzky R, Izumi K, Edmondson A, et al. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A, 2015, 167(10): 2411-2417.
13. Ng BG, Underhill HR, Palm L, et al. DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients. JIMD Rep, 2019, 44: 85-92.
14. Tabatabaei Z, Karbalaie KH, Habibzadeh P, et al. Pre-implantation genetic testing for monogenic disorders (PGT-m) in a family with a novel mutation in DPAGT1 gene. Cell J, 2021, 23(5): 593-597.
15. ?zsoy ?, Cinleti T, Günay ?, et al. DPAGT1-CDG: report of two new pediatric patients and brief review of the literature. Mol Syndromol, 2023, 14(4): 322-330.
16. Tao H, Sun Y, Zhai J, et al. DPAGT1-CDG: recurrent fetal death. Birth Defects Res, 2023, 1115(13): 1185-1191.
17. Reily C, Stewart TJ, Renfrow MB, et al. Glycosylation in health and disease. Nat Rev Nephrol, 2019, 15(6): 346-366.
18. Cherepanova N, Shrimal S, Gilmore R. N-linked glycosylation and homeostasis of the endoplasmic reticulum. Curr Opin Cell Biol, 2016, 41: 57-65.
19. Wang M, Kaufman RJ. Protein misfolding in the endoplasmic reticulum as a conduit to human disease. Nature, 2016, 529(7586): 326-335.
20. Wilson MP, Matthijs G. The evolving genetic landscape of congenital disorders of glycosylation. Biochim Biophys Acta Gen Subj, 2021, 1865(11): 129976.
21. Ondruskova N, Cechova A, Hansikova H, et al. Congenital disorders of glycosylation: Still "hot" in 2020. Biochim Biophys Acta Gen Subj, 2021, 1865(1): 129751.
22. Sengupta PK, Bouchie MP, Kukuruzinska MA. N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway. J Biol Chem, 2010, 8285(41): 31164-31173.
23. Park JH, Marquardt T. Treatment options in congenital disorders of glycosylation. Front Genet, 2021, 12: 735348.
24. Boyer SW, Johnsen C, Morava E. Nutrition interventions in congenital disorders of glycosylation. Trends Mol Med, 2022, 28(6): 463-481.
25. Péanne R, de Lonlay P, Foulquier F, et al. Congenital disorders of glycosylation (CDG): quo vadis? Eur J Med Genet, 2018, 61(11): 643-663.
26. Dalton HM, Viswanatha R, Brathwaite R Jr, et al. A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress. PLoS Genet, 2022, 2718(9): 1010430.

Journal of Epilepsy

DPAGT1基因變異相關先天性糖基化障礙一例并文獻復習

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