Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.

摘要: Mutations in the RFX6 gene were recently described to underlie a distinct autosomal recessive syndrome of neonatal diabetes comprising intestinal atresia and hepatobiliary abnormalities. Until now, only six patients harboring mutations have been reported. We report on new case due novel homozygous splice site mutation update clinical outcome previously reported patient. In addition we review molecular features all mutated cases better characterize syndrome. Our results suggest that despite early postnatal fulminant course, who survive may expect relatively favorable prognosis. © 2011 Wiley Periodicals, Inc.