先天性腹泻症 7 中发现的新型 DGAT1 基因突变:病例报告与治疗经验。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0005
C Shi, X L Liu, X N Li, Y J Zhao
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引用次数: 0

摘要

先天性腹泻症(CDD)是一组罕见的遗传性肠道疾病,其中 CDD7 最近被确认与编码二酰甘油酰基转移酶 1(DGAT1)的基因中仅有的 24 个突变有关。我们报告了一名女性患者,她出生后出现腹泻、呕吐、低白蛋白血症和发育不良。通过全外显子组测序在 DGAT1 基因中发现了 c.1215_1216delAG 和 c.838C>T 两个新变异,并通过桑格测序证实这两个变异是复合杂合子。经过一年的限脂肠内饮食治疗,她的症状和营养状况明显改善。年龄体重和身长体重分别从3个月时的-5.0 SDS和-4.0 SDS增加到15个月时的+0.08 SDS和+1.75 SDS。该报告扩大了DGAT1相关CDD7的突变谱,丰富了我们对其临床特征的认识。此外,还建议对此类患者进行早期限脂肠内饮食干预治疗。
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Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.

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.

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来源期刊
CiteScore
1.00
自引率
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>12 weeks
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.
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