1 – Serviço de Genética Médica, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central;
2 - University of Exeter Medical School, Exeter, United Kingdom;
3 - Cirurgia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal;
4 - UCIN, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
Case Rep Genet. 2015;2015:937201. doi: 10.1155/2015/937201. Epub 2015 Dec 3.
http://www.ncbi.nlm.nih.gov/pubmed/26770845
Resumo:
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 diahrrea, and severe intrauterine growth restriction. Peri- jejunal 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.
Palavras Chave: Mitchell-Riley syndrome, neonatal diabetes, pancreas, RFX6 mutation