Results 21 to 30 of about 4,073 (218)

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. [PDF]

PLoS ONE, 2008
The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi   +3 more
doaj   +1 more source

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency [PDF]

Clinical Chemistry, 2012
Abstract BACKGROUND Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and its highly homologous pseudogene CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), are common in patients ...
Wuyan, Chen, Zhi, Xu, Annie, Sullivan, Gabriela P, Finkielstain, Carol, Van Ryzin, Deborah P, Merke, Nazli B, McDonnell   +6 more
openaire   +4 more sources

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

BMC Medical Genetics, 2008
Background Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings.
Odell J Dennis, Odell Daniel W, Sweeten Thayne L, Torres Anthony R   +3 more
doaj   +1 more source

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]

, 2002
Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman), Hoogenboezem, T. (Theo), Koppens, P.F.J.   +2 more
core   +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   +1 more source

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease.
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
doaj   +1 more source

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

Frontiers in Endocrinology, 2022
Congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is an autosomal recessive disorder. The 21-hydroxylase enzyme P450c21 is encoded by the CYP21A2 gene located on chromosome 6p21.33 within the HLA major histocompatibility complex.
Roxana Marino, Angélica Moresco, Natalia Perez Garrido, Pablo Ramirez, Alicia Belgorosky, Alicia Belgorosky   +5 more
doaj   +1 more source