{"title":"Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.","authors":"C Shi, X L Liu, X N Li, Y J Zhao","doi":"10.2478/bjmg-2024-0005","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital diarrheal disorders (CDD) are a group of rare inherited intestinal disorders, among which CDD7 was recently identified to be associated with only 24 mutations in gene coding for diacylglycerol-acyltransferase 1 (<i>DGAT1</i>). We report on a female patient who presented with diarrhea, vomiting, hypoalbuminemia, and failure to thrive after birth. Two novel variants of c.1215_1216delAG and c.838C>T were found in the <i>DGAT1</i> gene by whole exome sequencing, which was confirmed to be compound heterozygous by Sanger sequencing. Her symptoms and nutritional status improved significantly after 1 year of a fat-restricted enteral diet. Weight for age and weight for length increased from -5.0 SDS and -4.0 SDS at 3 months to +0.08 SDS and +1.75 SDS at 15 months, respectively. This report expanded the mutation spectrum of <i>DGAT1-</i>related CDD7 and enriched our knowledge of the clinical features. Moreover, early fat-restricted enteral diet intervention was suggested for the treatment of such patients.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385020/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2024-0005","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Congenital diarrheal disorders (CDD) are a group of rare inherited intestinal disorders, among which CDD7 was recently identified to be associated with only 24 mutations in gene coding for diacylglycerol-acyltransferase 1 (DGAT1). We report on a female patient who presented with diarrhea, vomiting, hypoalbuminemia, and failure to thrive after birth. Two novel variants of c.1215_1216delAG and c.838C>T were found in the DGAT1 gene by whole exome sequencing, which was confirmed to be compound heterozygous by Sanger sequencing. Her symptoms and nutritional status improved significantly after 1 year of a fat-restricted enteral diet. Weight for age and weight for length increased from -5.0 SDS and -4.0 SDS at 3 months to +0.08 SDS and +1.75 SDS at 15 months, respectively. This report expanded the mutation spectrum of DGAT1-related CDD7 and enriched our knowledge of the clinical features. Moreover, early fat-restricted enteral diet intervention was suggested for the treatment of such patients.
期刊介绍:
Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.