Xiao Feifan, Liu Xiuyun, Lu Yulan, Wu Bingbing, Liu Renchao, Liu Bo, Yan Kai, Chen Huiyao, Cheng Guoqiang, Wang Laishuan, Ni Qi, Li Gang, Zhang Ping, Peng Xiaomin, Cao Yun, Shen Chun, Wang Huijun, Zhou Wenhao
Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Front Genet. 2021 May 7;12:615072. doi: 10.3389/fgene.2021.615072. eCollection 2021.
The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data of individuals from January 2016 to June 2020 for 17q12 duplication. To identify the function of the key gene of in the 17q12 duplication region, human mRNA was microinjected into LiPan zebrafish transgenic embryos. A total of 19 cases of 17q12 duplication were confirmed. AP was diagnosed during exploratory laparotomy in four patients (21.1%). The other common features of 17q12 duplication included intellectual disability (50%), gross motor delay (50%), and seizures/epilepsy (31.58%). The ratio of the abnormal pancreas in zebrafish was significantly higher in the overexpression models. In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome. Furthermore, our zebrafish studies verified the role of the gene in pancreatic development.
环状胰腺（AP）是一种胰腺先天性异常，可在出生后引起急性腹痛和呕吐。然而，AP的遗传原因仍然未知，尚无研究报道17q12重复患者出现AP。本研究回顾性分析了2016年1月至2020年6月期间17q12重复个体的二代测序（NGS）数据。为了确定17q12重复区域关键基因的功能，将人mRNA显微注射到LiPan斑马鱼转基因胚胎中。共确诊19例17q12重复。4例患者（21.1%）在剖腹探查术中被诊断为AP。17q12重复的其他常见特征包括智力残疾（50%）、大运动发育迟缓（50%）和癫痫发作/癫痫（31.58%）。在过表达模型中，斑马鱼胰腺异常的比例显著更高。总之，我们首次报道了17q12区域重复患者出现AP，导致17q12重复综合征的表型。此外，我们的斑马鱼研究证实了该基因在胰腺发育中的作用。
