Results 21 to 30 of about 3,461 (195)

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   +2 more sources

Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of Molecular Diagnostics, 2013
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of adrenal steroidogenesis caused by mutations in the CYP21A2 gene.
Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B.   +3 more
openaire   +2 more sources

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

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   +2 more sources

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

International Journal of Endocrinology, 2020
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani   +7 more
doaj   +2 more sources

Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems [PDF]

Balkan Journal of Medical Genetics, 2015
AbstractThe objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in theCYP21A2gene and various clinical and laboratory parameters.
Stangler Herodež, Špela, Fijavž, Lusien, Zagradišnik, Boris, Kokalj-Vokač, Nadja   +3 more
openaire   +6 more sources

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

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   +2 more sources

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2007
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of ...
Claahsen-van der Grinten, H.L., Hoefsloot, L.H.   +1 more
core   +4 more sources

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Advances in Laboratory Medicine, 2023
La recombinación entre CYP21A2-TNXB y sus respectivos pseudogenes (CYP21A1P-TNXA) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC ...
Martínez Figueras Laura, Muñoz Pacheco Rafael, García González Dolores, Arriba Domènech María, Ezquieta Zubicaray Begoña   +4 more
doaj   +1 more source

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Advances in Laboratory Medicine, 2023
The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos ...
Figueras Laura Martínez, Pacheco Rafael Muñoz, González Dolores García, Domènech María Arriba, Zubicaray Begoña Ezquieta   +4 more
doaj   +1 more source