The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

ObjectiveThe study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH) allele when inherited in a duplicated and...

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Bibliographic Details
Main Authors: Pavlos Fanis, Nicos Skordis, Meropi Toumba, Michalis Picolos, George A. Tanteles, Vassos Neocleous, Leonidas A. Phylactou
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Endocrinology
Subjects:
CYP21A2
21-hyrdroxylase deficiency
RCCX
gene duplications
CAH
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1156616/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1156616/full

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