A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report
A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report
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DOI：
10.1016/j.diabet.2013.01.005
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发表时间：
2013-09-01
影响因子：
7.2
通讯作者：
Bober, E.
中科院分区：
文献类型：
--
作者：
Catli, G.;Abaci, A.;Bober, E.
永久性新生儿糖尿病是一种罕见的疾病，主要是由于KCNJ11，ABCC8和INS基因的杂合突变。新生儿糖尿病由于胰腺发育不全是非常罕见的。PDX1、PTF1A、HNF1B、EIF2AK3、RFX6和GATA6基因突变已被证明可导致胰腺发育不全或发育不全。本报告描述了一名40天大的男婴，被诊断为永久性新生儿糖尿病，伴房间隔缺损、肺动脉狭窄、动脉导管未闭和GATA 6基因中的一种新的新生杂合错义突变（p.N466S），无外分泌胰腺功能不全的证据。除永久性新生儿糖尿病外，患者还出现与胰岛素治疗无关的一过性特发性新生儿胆汁淤积和低血糖发作，这些特征在永久性新生儿糖尿病儿童中很少描述。(C)2013年Elsevier Masson SAS。All rights reserved.
Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the KCNJ11, ABCC8 and INS genes. Neonatal diabetes due to pancreatic agenesis is extremely rare. Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. This report describes a 40-day-old male infant diagnosed with permanent neonatal diabetes associated with atrial septal defect, pulmonary stenosis, patent ductus arteriosus and a novel de novo heterozygous missense mutation (p.N466S) in the GATA6 gene with no evidence of exocrine pancreas insufficiency. In addition to permanent neonatal diabetes, the patient had transient idiopathic neonatal cholestasis and hypoglycaemic episodes unrelated to insulin treatment, features that are rarely described in children with permanent neonatal diabetes. (C) 2013 Elsevier Masson SAS. All rights reserved.