Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid.
Ja Hye Kim +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 +16 more
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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 +3 more
doaj +1 more source
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
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) +2 more
core +2 more sources
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
Novel deletion alleles carrying /chimeric genes in Brazilian patients with 21-hydroxylase deficiency [PDF]
, 2010 Made available in DSpace on 2016-01-24T13:59:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-06-29. Added 1 bitstream(s) on 2016-01-31T13:34:36Z : No.
Araujo, Marcela de +10 more
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Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations [PDF]
International Journal of Molecular Sciences, 2021 Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants to understand the links to disease-causing effects ...
Mayara J. Prado +9 more
openaire +4 more sources
Alta freqüência da mutação Q318X em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase no nordeste do Brasil [PDF]
, 2009 OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the ...
AGUIAR-OLIVEIRA, Manuel H. +4 more
core +2 more sources
Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients [PDF]
, 2011 Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2).
Abdul Jabbar +5 more
core +4 more sources