4.7 Review

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Endocrinology & Metabolism

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

Hedi L. Claahsen-van der Grinten et al.

Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders affecting cortisol biosynthesis, with the most common form caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Recent developments include advancements in understanding steroidogenic pathways, improvements in diagnostic measurements, and exploration of alternative medications and treatments for CAH patients.

ENDOCRINE REVIEWS (2022)

Review Biophysics

DNA sequencing: an overview of solid-state and biological nanopore-based methods

Mohammad M. Mohammadi et al.

Summary: Sequencing is a significant and increasingly important field. Among the third-generation techniques, nanopore sequencing has received more attention due to its unique characteristics. This review elaborates on both biological and solid-state nanopores, discussing their applications and the research done to overcome obstacles.

BIOPHYSICAL REVIEWS (2022)

Article Multidisciplinary Sciences

Single-molecule nanopore sequencing reveals extreme target copy number heterogeneity in arylomycin-resistant mutants

Hany S. Girgis et al.

Summary: Tandem gene amplification is a common and dynamic source of antibiotic resistance in bacteria, as shown by using the MinION single-molecule nanopore sequencer to uncover CN heterogeneity in clonal populations of Escherichia coli and Acinetobacter baumannii. This study highlights how gene amplification can drive cell heterogeneity and evolutionary plasticity in response to novel antibiotics.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

Letter Biochemistry & Molecular Biology

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

Qizong Lao et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Article Endocrinology & Metabolism

Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects

Flavia A. Costa-Barbosa et al.

Summary: Heterozygotes for 21-hydroxylase deficiency are common, and screening for asymptomatic carriers using LC-MS/MS-measured post-ACTH steroid phenotypes is valuable. New cutoff values for 21-deoxycortisol, 17-hydroxyprogesterone, and their ratio to cortisol were defined to distinguish different phenotypes, showing good sensitivity and specificity in identifying carriers of 21OHD.

CLINICAL ENDOCRINOLOGY (2021)

Article Biochemistry & Molecular Biology

Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia

Wencui Wang et al.

Summary: Researchers successfully established a targeted next-generation sequencing (NGS) assay for genotyping CAH patients, identifying pathogenic variants in nearly all cases. Additionally, the assay efficiently facilitated the diagnosis of CAH in patients with rare subtypes and non-classic phenotypes.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2021)

Article Genetics & Heredity

PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

Zachary Stephens et al.

Summary: Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. PB-Motif is a new method for identifying rearrangements between two highly homologous genomic regions using PacBio long reads, efficiently reporting rearrangements in the presence of sequencing errors and other systematic artifacts.

FRONTIERS IN GENETICS (2021)

Article Endocrinology & Metabolism

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

Federica Buonocore et al.

Summary: Genetic causes of primary adrenal insufficiency in children and young people were investigated in a cohort of 155 individuals in the UK, with 66.5% receiving a genetic diagnosis. Pathogenic variants were identified in 11 genes, highlighting the importance of genetic testing in defining the cause of PAI. Age at presentation, treatment, ancestral background, and birth weight can provide diagnostic clues, but genetic testing is often necessary for accurate diagnosis.

JOURNAL OF THE ENDOCRINE SOCIETY (2021)

Article Endocrinology & Metabolism

Clinical application of a novel next generation sequencing assay forCYP21A2gene in 310 cases of 21-hydroxylase congenital adrenal hyperplasia from India

Priyanka Gangodkar et al.

Summary: A comprehensive NGS-based assay was developed and validated for detecting variants in the CYP21A2 gene in Indian patients with 21-OH CAH. The study identified biallelic mutations in the majority of cases, with the most common mutations being c.293-13A/C>G and 30 kb deletion. Orthogonal confirmation showed 100% concordance with NGS results and nine novel variants were identified.

ENDOCRINE (2021)

Review Genetics & Heredity

Solid-state nanopores towards single-molecule DNA sequencing

Yusuke Goto et al.

JOURNAL OF HUMAN GENETICS (2020)

Article Biochemistry & Molecular Biology

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

Valentina Guarnotta et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2020)

Review Endocrinology & Metabolism

11-Oxygenated androgens in health and disease

Adina F. Turcu et al.

NATURE REVIEWS ENDOCRINOLOGY (2020)

Article Biochemistry & Molecular Biology

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Sabina Baumgartner-Parzer et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Review Endocrinology & Metabolism

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach

Sarantis Livadas et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Review Endocrinology & Metabolism

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Duarte Pignatelli et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Article Endocrinology & Metabolism

Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study

Anna Nordenstrom et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Endocrinology & Metabolism

Assisted Reproduction in Congenital Adrenal Hyperplasia

Anastasios Chatziaggelou et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Review Obstetrics & Gynecology

Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation

Mithra L. Narasimhan et al.

FERTILITY AND STERILITY (2019)

Article Genetics & Heredity

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

Leandro Simonetti et al.

HUMAN MUTATION (2018)

Article Endocrinology & Metabolism

News about the genetics of congenital primary adrenal insufficiency

Florence Roucher-Boulez et al.

ANNALES D ENDOCRINOLOGIE (2018)

Review Endocrinology & Metabolism

MECHANISMS IN ENDOCRINOLOGY Rare defects in adrenal steroidogenesis

Walter L. Miller

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2018)

Review Endocrinology & Metabolism

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Walter L. Miller et al.

HORMONE RESEARCH IN PAEDIATRICS (2018)

Article Endocrinology & Metabolism

Newborn screening of congenital adrenal hyperplasia

Elena Dulín Iñiguez et al.

Endocrinologia Diabetes y Nutricion (2018)

Article Endocrinology & Metabolism

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis W. Speiser et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Review Medicine, General & Internal

Congenital adrenal hyperplasia

Diala El-Maouche et al.

LANCET (2017)

Article Endocrinology & Metabolism

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

Daniel F. de Carvalho et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia

Hale Unver Tuhan et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2015)

Article Genetics & Heredity

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Roseane Lopes da Silva-Grecco et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2015)

Review Endocrinology & Metabolism

Biochemical and genetic diagnosis of 21-hydroxylase deficiency

Henrik Falhammar et al.

ENDOCRINE (2015)

Article Obstetrics & Gynecology

Fertility in patients with congenital adrenal hyperplasia

David E. Reichman et al.

FERTILITY AND STERILITY (2014)

Article Endocrinology & Metabolism

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

Maria I. New et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia

Ingeborg Bronstad et al.

ENDOCRINE CONNECTIONS (2014)

Article Multidisciplinary Sciences

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

Shozeb Haider et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Multidisciplinary Sciences

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Maria I. New et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Endocrinology & Metabolism

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

Sebastian Gidlof et al.

LANCET DIABETES & ENDOCRINOLOGY (2013)

Article Medical Laboratory Technology

Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

Wuyan Chen et al.

CLINICAL CHEMISTRY (2012)

Article Endocrinology & Metabolism

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

Paola Concolino et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2012)

Article Genetics & Heredity

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

Zuzana Vrzalova et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)

Article Endocrinology & Metabolism

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis W. Speiser et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Genetics of congenital adrenal hyperplasia

Nils Krone et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency

Larissa G. Gomes et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

S. Kleinle et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Genetics & Heredity

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

Thayne L. Sweeten et al.

BMC MEDICAL GENETICS (2008)

Article Endocrinology & Metabolism

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

Osnat Admoni et al.

CLINICAL ENDOCRINOLOGY (2006)

Article Endocrinology & Metabolism

Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population

SM Baumgartner-Parzer et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)

Article Cell Biology

Inborn errors of adrenal steroidogenesis

MI New

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2003)

Article Endocrinology & Metabolism

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

A Elisa et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)