Steroid 21-hydroxylase gene variants and late-life depression
BMC Research Notes, 2021 Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin +4 more
doaj +1 more source
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
Frontiers in Genetics, 2022 Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type.
Aisha Tolba +11 more
doaj +1 more source
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2022 Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD).
Mirjana Kocova +3 more
doaj +1 more source
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 +3 more
doaj +1 more source
ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA [PDF]
Biotechnologia Acta, 2014 The technique of CYP21A2 gene mutation analysis, which can be applicable for pre- and postnatal diagnosis of congenital adrenal hyperplasia various types was developed.
Chernushyn S. Yu., Livshits L. A.
doaj +1 more source
Mutation Analysis of the CYP21A2 Gene in the Iranian Population [PDF]
, 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 ...
Bagher Larijani +17 more
core +1 more source
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations [PDF]
, 2021 Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis.
Zaha, Arnaldo +26 more
core +1 more source
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 +9 more
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 +5 more
doaj +1 more source
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