ea0036P4 | (1) | BSPED2014
Chan Li
, Novoselova Tatiana
, Rath Shoshana
, Carpenter Karen
, Pachter Nick
, Price Glynis
, Dickinson Jan
, Choong Cathy
, Metherell Lou
Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...