ea0027oc1.6 | Oral Communications 1 | BSPED2011
Metherell Lou
, Meimaridou Eirini
, Kowalczyk Julia
, Guasti Leo
, Hughes Claire
, Mann Nicholas
, Banerjee Ritwik
, King Peter
, Clark Adrian
Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...