NOVEL DGAT1 MUTATIONS IDENTIFIED IN CONGENITAL DIARRHEAL DISORDER 7: A CASE REPORT WITH THERAPEUTIC EXPERIENCE
Shi C, Liu XL, Li XN, Zhao YJ
*Corresponding Author: Yunjing Zhao, PhD, Department of Pediatrics, Shengjing Hospital of China Medical University, No.36 Sanhao Street, Shenyang 110004, China; Email: zhaoyunjing@sj-hospital.org
page: 69

REFERENCES

1. van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, et al. Intes- tinal failure and aberrant lipid metabolism in pa- tients with DGAT1 deficiency. Gastroenterology. 2018;155(1):130-143.e15. 2. Cases S, Smith SJ, Zheng YW, Myers HM, Lear SR, Sande E, et al. Identification of a gene encoding an acyl CoA: diacylglycerol acyltransferase, a key en- zyme in triacylglycerol synthesis. Proc Natl Acad Sci U S A. 1998;95(22):13018-13023. 3. Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, et al. DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012;122(12):4680-4684. 4. Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode- Shakked B, Mazaheri S, et al. Congenital protein losing enteropathy: an inborn error of lipid metabo- lism due to DGAT1 mutations. Eur J Hum Genet. 2016;24(9):1268-1273. 5. Eldredge JA, Couper MR, Barnett CP, Rawlings L, Couper RTL. New pathogenic mutations associated with diacylglycerol O-acyltransferase 1 deficiency. J Pediatr.2021;233:268-272. 6. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hop- kin R, Linehan AR, et al. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020;63(4):103817. 7. Schlegel C, Lapierre LA, Weis VG, Williams JA, Kaji I, Pinzon-Guzman C, et al. Reversible defi- cits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase. Traf- fic.2018;19(11):879-892. 8. Gluchowski NL, Chitraju C, Picoraro JA, Mejhert N, Pinto S, Xin W, et al. Identification and char- acterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J Lipid Res. 2017;58(6):1230-1237. 9. Yen CL, Stone SJ, Koliwad S, Harris C, Farese RV Jr. Thematic review series: glycerolipids. DGAT en- zymes and triacylglycerol biosynthesis. J Lipid Res. 2008;49(11):2283-2301. 10. Chen HC, Farese RV Jr. Inhibition of triglyceride synthesis as a treatment strategy for obesity: lessons from DGAT1-deficient mice. Arterioscler Thromb Vasc Biol.2005;25(3):482-486. 11. Xu L, Gu W, Luo Y, Lou J, Chen J. DGAT1 mutations leading to delayed chronic diarrhoea: a case report. BMC Med Genet. 2020;21(1):239. 12. Ye Z, Huang Y, Wang Y, Lu J, Wu J, Yu Z. Pheno- type and genotype of a cohort of Chinese children with early-onset protein-losing enteropathy. J Pediatr. 2019;208:38-42.e3. 13. Cheng Q, Fang YH, Luo YY, Lou JG, Chen J. Con- genital diarrhea disorders caused by diacylglycerol acyl transferase 1 gene mutation. Zhonghua Er Ke Za Zhi. 2020;58(12):1018-1020. 14. Valentini MA, Fedrizzi VA, Krochik AG, Abbate S, Ferrari M, Contreras MB, et al. DGAT1 mutation in two sisters with failure to thrive: a case report. Arch Argent Pediatr. 2023;121(1):e202202606. 15. Ratchford TL, Kirby AJ, Pinz H, Patel DR. Congenital diarrhea from DGAT1 mutation leading to electrolyte derangements, protein-losing enteropathy, and rick- ets. J Pediatr Gastroenterol Nutr. 2018;66(3):e82-e83. 16. Wang S, Wang J, Li T, Wang D, Zeng L. Congenital diarrhea and enteropathies caused by DGAT1 gene mutation:a case report and literature review. Chin J Obstet Gynecol Pediatr (Electron Ed).2022;18(2):192- 197. (Article in Chinese)



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