Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

ABSTRACT:

Context

The steroidogenic enzyme aromatase (CYP19A1) is required for estrogen biosynthesis from androgen precursors in the ovary and extragonadal tissues. The role of aromatase, and thus estrogens, is best illustrated by genetic variations of the CYP19A1 gene leading to aromatase deficiency or excess.

Objective

The objective of this work is to characterize novel CYP19A1 variants.

Design setting and patients

Variants causing aromatase deficiency were suspected in four 46,XX children of African and Indian origin by careful clinical phenotyping. Sequencing of the CYP19A1 gene identified novel variants. Minigene experiments, aromatase activity assay, and computational, and histological analysis were used to characterize the variants.

Main outcome m

SUBMITTER: Praveen VP 

PROVIDER: S-EPMC7159065 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature