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ea0045oc5.6 | Oral Communications 5- Endocrine | BSPED2016

Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Cheetham Tim , Brain Caroline , Gray Ewan , Suntharalingham Jenifer , Striglioni Niccolo , Spoudeas Helen , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

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ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as benign. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

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ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as benign. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

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Endocrine Abstracts

Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

BiosciAbstracts