Zegre Amorim Marta, Houghton Jayne A L, Carmo Sara, Salva Inês, Pita Ana, Pereira-da-Silva Luis
Genetics Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal.
Royal Devon and Exeter Hospital, Exeter, Devon EX2 5DW, UK.
Case Rep Genet. 2015;2015:937201. doi: 10.1155/2015/937201. Epub 2015 Dec 3.
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 and β-cell function, adding information to the existent mutation databases.
在一名患有米切尔-莱利综合征的婴儿中发现了一种新的RFX6纯合错义突变。米切尔-莱利综合征的最常见特征均有出现，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、慢性腹泻以及严重的宫内生长受限。在黏膜下层发现了类似于胰腺组织的空肠周围组织，这一发现此前在该综合征中尚未有报道。该病例将RFX6突变与胰腺的结构和功能异常相关联，强化了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添了信息。
