Results 21 to 30 of about 6,001 (240)

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal hyperplasia [PDF]

Prenatal Diagnosis, 2023
Trio exome sequencing was performed on a fetus with bilateral mesomelia of the lower limbs with significant angulation of the tibial bones, micrognathia and hypertelorism detected on ultrasound scan at 19 + 0 weeks gestation. The couple is consanguineous.
Clare Willison, Vijaya Ramachandran, Natalie Chandler, Sara Hillman, Tazeen Ashraf   +4 more
openalex   +2 more sources

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form [PDF]

BMC Medical Genetics, 2009
Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3.
Toscano Vincenzo, Zuppi Cecilia, Giardina Emiliano, Minucci Angelo, Mello Enrica, Concolino Paola, Capoluongo Ettore   +6 more
doaj   +4 more sources

8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH [PDF]

J Endocr Soc
Disclosure: A. Matveeva: None. Y. Xu: None. V. Tardy-Guidollet: None. A.V. Pandey: None. Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive genetic disorders affecting the production of glucocorticoids ...
Anna Matveeva, Yingtong Xu, V. Tardy-Guidollet, Amit V Pandey   +3 more
europepmc   +2 more sources

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

Frontiers in Endocrinology, 2023
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)
Pavlos Fanis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Meropi Toumba, Meropi Toumba, Michalis Picolos, George A. Tanteles, Vassos Neocleous, Leonidas A. Phylactou   +9 more
doaj   +2 more sources

Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene. [PDF]

Curr Issues Mol Biol
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects.
Concolino P.
europepmc   +2 more sources

Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Bernardi, Renan Darin, Coeli, Fernanda Borchers, Justo, Giselle Zenker, Lemos-Marini, Sofia Helena Valente de, Maturana, Víctor Gonçalves, Mello, Maricilda Palandi de, Silva, Márcia Duarte Barbosa da, Soardi, Fernanda Caroline   +7 more
core   +11 more sources

Diagnosis of mutations in the CYP21A2 gene [PDF]

Endocrine Surgery
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E. S. Podshivalova, Ekaterina A. Vetchinkina, Т. В. Погода, Marina V Utkina   +3 more
openalex   +2 more sources

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

JCRPE, 2022
INTRODUCTION: Standard dose synacthen stimulation test (SDSST) is a gold standard screening test for evaluating adrenal gland function. Despite studies using SDSST to identify heterozygosity in CYP21A2, the reliability of the test for this purpose is ...
Seher Polat, Yusuf Kemal Arslan
doaj   +2 more sources

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]

PLoS ONE, 2013
The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó, Ágnes Szilágyi, Zoltán Doleschall, Attila Patócs, Henriette Farkas, Zoltán Prohászka, Kárioly Rácz, George Füst, Márton Doleschall   +8 more
doaj   +6 more sources

Mutation Analysis of the CYP21A2 Gene in the Iranian Population [PDF]

Genetic Testing and Molecular Biomarkers, 2012
Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia. Forty four affected families were investigated to identify the mutation spectrum of the CYP21A2 gene ...
Akbari, M. T., Ashtiani, M. T. H., Larijani, B., Mahdieh, N., New, M., Parsa, A., Rabbani, A., Rabbani, B., Schouten, J. P.   +8 more
core   +5 more sources