SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

ABSTRACT:

Context

Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI.

Objective

To check if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit nephrotic syndrome.

Methods

Sequencing of the SGPL1 gene in 21 patients with familial glucocorticoid disease or triple A syndrome.

Results

We identified two missense SGPL1 variants in four patients, two of whom were first cousins. We describe in detail the proband, a boy born to Saudi Arabian consanguineous parents with a homoz

SUBMITTER: Settas N 

PROVIDER: S-EPMC6435096 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature