Modulation of PC1/3 activity by a rare double-site homozygous mutation.

ABSTRACT:

Objectives

Preprotein convertase 1/3 deficiency is a rare autosomal recessive disorder in which patients present with malabsorptive diarrhea and a series of symptoms of endocrine disorders such as polydipsia, reactive hypoglycemia, growth hormone deficiency, hypothyroidism, adrenal insufficiency, and early onset obesity. In its essence, pituitary hormone deficiency is caused by insufficient cleavage of pituitary prohormones. Here, we describe a female child with a rare double-site homozygous mutation in PCSK1 (Proprotein convertase subtilisin/kexin-type 1) gene, and thereby intend to investigate the relationship between these novel mutation sites and changes in protein synthesis and function.

Methods

We tested this patient's blood and urine fecal indicators of infecti

SUBMITTER: Ni Y 

PROVIDER: S-EPMC9659753 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature