A new
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 +6 more
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A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene [PDF]
HeliyonMolecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan +10 more
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The spectrum of CYP21A2 gene mutations from 16 families of congenital adrenal hyperplasia: Genotype-phenotype correlation [PDF]
Indian Journal of Endocrinology and Metabolism, 2021 Aim: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to 21-hydroxylase deficiency resulting from mutations in CYP21A2 gene.
Subbiah Sridhar +8 more
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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche [PDF]
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 +7 more
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Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]
PLoS ONE, 2013 The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó +8 more
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The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background 21‐Hydroxylase deficiency (21‐OHD) caused by the CYP21A2 gene mutations is the most common form of congenital adrenal hyperplasia. It is an autosomal recessive disorder that results in defective synthesis of cortisol and aldosterone.
Yang Liu +9 more
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Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene [PDF]
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
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Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene [PDF]
Current Issues in Molecular BiologyCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects.
Paola Concolino
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Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients [PDF]
BMC Endocrine Disorders, 2011 Background Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2).
Jabbar Abdul +5 more
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Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology [PDF]
Risk Management and Healthcare PolicyYibo Chen,1 Qi Yu,2 Lisha Ge,3,4 Lixin Weng,5 Xiaoli Pan,3,4 Xiaoxia Zhou,6 Nani Zhou,6 Yanjie Wang,6 Jia Jia,6 Haibo Li3,4,7 1Department of Clinical Laboratory, Women and Children’s Hospital of Ningbo University, Ningbo, 315012, People’s Republic of ...
Chen Y +9 more
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