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首页> 外文期刊>Case Reports in Genetics >Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
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Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

机译：Mitchell-Riley综合征：RFX6基因中的新型突变。

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A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development andβ-cell function, adding information to the existent mutation databases.
机译：在患有Mitchell-Riley综合征的婴儿中鉴定出一种新型RFX6纯合错义突变。目前存在Mitchell-Riley综合征的最常见特征，包括与环状胰腺相关的严重新生儿糖尿病，肠旋转不良，胆囊发育不全，胆汁淤积性疾病，慢性腹泻和严重的宫内生长受限。在粘膜下层发现类似于胰腺组织的空肠周围组织，这一发现先前未在该综合征中报道。这种将RFX6突变与胰腺结构和功能异常联系起来的案例加强了RFX6基因在胰腺发育和β细胞功能中的作用，为现有的突变数据库增加了信息。

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