Results 11 to 20 of about 7,344,533 (183)

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

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

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   +3 more sources

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
This case report describes a novel intronic mutation, CYP21A2:c.738+75C>T (rs1463196531), identified in a 4-year-old male with congenital adrenal insufficiency, and expands the known mutation spectrum associated with this condition.
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +3 more sources

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia [PDF]

International Journal of Endocrinology, 2017
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and ...
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A. P. Phedonos, Michalis Picolos, Elena Andreou, Tassos C. Kyriakides, George A. Tanteles, Christos Shammas, Leonidas A. Phylactou, Nicos Skordis   +10 more
doaj   +3 more sources

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy [PDF]

Case Reports in Endocrinology
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the CYP21A2 gene.
Michelle L. Kluge, Lynn Schema, Katy Schroepfer, Emily K. Thoreson, Kyriakie Sarafoglou, Ross A. Rowsey, Cherisse A. Marcou, Ann M. Moyer, Matthew J. Schultz   +8 more
doaj   +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   +2 more sources

OR25-01 Durable CYP21A2 Gene Therapy in Non-Human Primates for Treatment of Congenital Adrenal Hyperplasia [PDF]

J Endocr Soc, 2020
Severe Congenital Adrenal Hyperplasia (CAH) is most commonly caused by genetic defects in the CYP21A2 gene, which leads to a deficiency of 21-hydroxylase enzyme and disruption in the biosynthesis of Adrenal corticosteriods.
Eclov R, Lewis T, Kapadia M, Scott D, McCoy D, Rouse J, Romero K, Beard C, Mansfield G.   +8 more
europepmc   +2 more sources

Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene

Data in Brief, 2017
This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in “The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort” (R. Khajuria, R. Walia, A.
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
doaj   +2 more sources

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts [PDF]

Ophthalmic Genetics, 2021
Background Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease.
V. Berry, Nikolas Pontikos, A. Ionides, A. Kalitzeos, R. Quinlan, M. Michaelides   +5 more
semanticscholar   +2 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   +2 more sources