Article
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
Hormones (Athens, Greece) - 1 Mar 2023
Fanis Pavlos, Skordis Nicos, Phylactou Leonidas A, Neocleous Vassos
Abstract excerpt
BACKGROUND: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p21.3, the CYP21A2 gene is partially overlapped by the TNXB gene, the two residing in tandem with their highly homologous corresponding pseudogenes (CYP21A1P and TNXA), which leads to recurrent homologous recombination. METHODS AND RESULTS: In the present...
Topics
- Male
- Female
- Humans
- Adrenal Hyperplasia, Congenital
- Steroid 21-Hydroxylase
- Phenotype
- Mutation
- Tenascin