Results 11 to 20 of about 6,020 (257)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD [PDF]

Frontiers in Genetics
Background21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan, Jin Wang, Kaibi Chen, Jianru Zhang, Xiaohong Chen, Hui Yao   +5 more
doaj   +4 more sources

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene. [PDF]

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required. This study aimed to establish and evaluate a capillary electrophoresis-based assay for hotspot mutation ...
Tan J, Jin S, Huang L, Shao B, Wang Y, Wang Y, Zhang J, Su M, Tan J, Cheng Q, Xu Z.   +10 more
europepmc   +6 more sources

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2 [PDF]

Frontiers in Pharmacology, 2022
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases.
Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Maria Lucia Rosa Rossetti, Amit V. Pandey, Amit V. Pandey   +10 more
doaj   +6 more sources

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Molecular Genetics & Genomic Medicine, 2023
Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production.
Qizong Lao, Deepika D. Burkardt, Sarah Kollender, Fabio R. Faucz, Deborah P. Merke   +4 more
doaj   +4 more sources

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Background/Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene associated with 21-hydroxylase deficiency and increased levels of adrenal androgens.
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +4 more sources

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis. [PDF]

BMC Med Genomics
Background Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene.
Suwanlikit Y, Panthan B, Chitayanan P, Klumsathian S, Charoenyingwattana A, Chantratita W, Trachoo O.   +6 more
europepmc   +3 more sources

CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum. [PDF]

Avicenna J Med Biotechnol
Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98%
Zangene D, Moravej H, Ilkhanipoor H, Amirhakimi A, Afshar Z, Entezam M.   +5 more
europepmc   +4 more sources

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS) [PDF]

Egyptian Journal of Medical Human Genetics
Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov   +8 more
doaj   +3 more sources

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS [PDF]

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova   +8 more
doaj   +3 more sources

Navigating the Complex Landscape of CYP21A2 Variants [PDF]

Indian Journal of Pediatrics, 2023
Sudhisha Dubey, Neerja Gupta
semanticscholar   +4 more sources