Balkan Journal of Medical Genetics

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

INTRODUCTION

Congenital diarrheal disorders (CDD) are rare inher- ited intestinal disorders characterized by diarrhea, nutrient malabsorption, and sometimes life-threatening [1]. Genetic background of CDD is heterogeneous. Recent studies have shown that mutations in diacylglycerol-acyltransferase 1 (DGAT1, OMIM* 604900), a gene encoding a protein involved in lipid metabolism, were associated with CDD7 (OMIM# 615863). DGAT1 is a microsomal enzyme that is highly expressed in several organs, such as the small intestine, adrenal medulla, adrenal cortex, and testes [2]. DGAT1 and its isozyme diacylglycerol-acyltransferase 2 (DGAT2) are responsible for the conversion of diacylg- lycerol and fatty acyl-CoA to triacylglycerol in humans [1]. The human intestine might be particularly vulnerable to DGAT1 deficiency, as the human intestine expresses DGAT1 exclusively and DGAT2 is mainly expressed in the liver [1], whereas mice and other mammalian intestines express both DGAT1 and DGAT2 [3-4]. CDD7, caused by bi-allelic variants of the DGAT1 gene, mostly develops in the neonatal period with severe diarrhea, vomiting, hypoal- buminemia, and failure to thrive. To date, few mutations of the DGAT1 gene have been reported on. Herein, we present an infant with CDD7 caused by two novel DGAT1 mutations. The clinical features and physical growth parameters were analyzed and followed up at 12 months. The efficacy of nutritional therapy is instructive for pediatricians to consider as early treatment for such patients.

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