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Genetic defects of the CYP21A2 gene in girls with premature adrenarche [PDF]

Journal of Endocrinological Investigation, 2014
To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene.Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on ...
Vassos Neocleous, Leonidas A. Phylactou, Meropi Toumba, Christos Shammas, Alexia A P Phedonos, Nicos Skordis, Nicos Skordis, Andreas Kyriakou   +7 more
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Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes

Analytical Biochemistry, 2011
The CYP21A1P gene downstream of the XA gene, carrying 15 deteriorated mutations, is a nonfunctional pseudogene that shares 98% nucleotide sequence homology with CYP21A2 located on chromosome 6p21.3. However, these mutations in the CYP21A1P gene are not totally involved in each individual. From our analysis of 100 healthy ethnic Chinese (i.e., Taiwanese)
Hsien-Hsiung Lee, Li-Ping Tsai, Shu-Hua Chuang, Ching-Feng Cheng   +3 more
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Analysis of CYP21A1P and the duplicated CYP21A2 genes

Gene, 2012
The RCCX module on chromosome 6p21.3 has 3 possible forms: monomodular, bimodular, and trimodular. Chromosomes with 4 RCCX modules are very rare. In the monomodule, most of the CYP21A1P genes do not exist. However, haplotypes of the RCCX module with more than one CYP21A2 gene were observed.
Li-Ping Tsai, Hsien-Hsiung Lee
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CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

Hormone and Metabolic Research, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
Settas, N., Dracopoulou-Vabouli, M., Dastamani, A., Katsikis, I., Chrousos, G., Panidis, D., Dacou-Voutetakis, C.   +6 more
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CYP21A2 intronic variants causing 21-hydroxylase deficiency

Metabolism, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P, Rizza, R, Costella, A, Carrozza, C, Zuppi, C, Capoluongo, E.   +5 more
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