Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.

ABSTRACT:

Context

Genomic rearrangements at 15q21 have been shown to cause overexpression of CYP19A1 and resultant aromatase excess syndrome (AEXS). However, mutation spectrum, clinical consequences, and underlying mechanisms of these rearrangements remain to be elucidated.

Objective

The aim of the study was to clarify such unsolved matters.

Design, setting, and methods

We characterized six new rearrangements and investigated clinical outcome and local genomic environments of these rearrangements and of three previously reported duplications/deletions.

Results

Novel rearrangements included simple duplication involving exons 1-10 of CYP19A1 and simple and complex rearrangements that presumably generated chimeric genes consisting of the coding region of CYP19A1 and promote

SUBMITTER: Fukami M 

PROVIDER: S-EPMC5399493 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature