Searchable abstracts of presentations at key conferences in endocrinology

ea0016p246 | Diabetes and cardiovascular diseases | ECE2008

Phenotypically heterogenous neonatal diabetes within one family caused by a new mutation in the sulphonylurea receptor SUR1 (ABCC8)

Deiss Dorothee , Kordonouri Olga , Burger Walter , Herr Mathias , Flanagan Sarah , Elliard Sian , Hattersley Andrew , Raile Klemens

Background: Neonatal diabetes (ND) is a rare, mostly sporadic disorder diagnosed within the first 6 months of life that can either be transient or permanent. We report on a family of four phenotypically heterogenous subjects with ND characterized by a new heterozygous missense mutation (D212I) in exon 5 of the ABCC8 gene encoding the SUR1 subunit of the KATP channel.Patients: In each of small-for-gestational-age (SGA) female monocygous twins, ...