Johanson-Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and varying degrees of growth retardation. Variants in UBR1 gene are considered to be responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for severe growth retardation and frequent oily diarrhea. The physical examination revealed nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound and computed tomography scan of his abdomen demonstrated complete fatty replacement of the pancreas. The clinical, laboratory, and imaging findings strongly suggest the diagnosis of hereditary pancreatitis. Whole exome sequencing revealed two rare compound heterozygous variants, c.2511T > G (p.H837Q) and c.1188T > G (p.Y396X), in the UBR1 gene of this boy, so, the diagnosis of JBS was established. This is the first report of Chinese patient with JBS, and our study indicates that transabdominal ultrasound and computed tomography are two useful and noninvasive imaging methods for the diagnosis and evaluation of JBS, and identification of these two novel variants expands the database of UBR1 gene variants. Furthermore, with the availability of the identification technology for these variants, prenatal diagnosis could be offered for future pregnancies.

译文

:Johanson-Blizzard综合征(JBS)是一种罕见的常染色体隐性遗传疾病,其特征是外分泌胰腺功能不全,明显的异常面部外观和不同程度的发育迟缓。 UBR1基因的变异被认为是该综合征的原因。在这里,我们描述了一个3岁的男孩,他因严重的发育迟缓和频繁的油性腹泻而去了我们的诊所。体格检查发现鼻阿拉斯发育不全,头皮缺损和左睾丸异常。经腹超声和腹部计算机断层扫描显示胰腺完全脂肪替代。临床,实验室和影像学检查结果强烈提示遗传性胰腺炎的诊断。整个外显子组测序揭示了该男孩的UBR1基因中两个罕见的化合物杂合变异体c.2511T> G(p.H837Q)和c.1188T> G(p.Y396X),因此确定了JBS的诊断。这是中国JBS患者的第一份报告,我们的研究表明,经腹超声和计算机断层扫描是诊断和评估JBS的两种有用且无创的成像方法,对这两个新变异的鉴定扩大了UBR1基因变异的数据库。此外,随着这些变体的识别技术的普及,可以为将来的怀孕提供产前诊断。

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