Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing

Ohlsson, Gita; Schwartz, Marianne

doi:10.1007/s004390050319

Cited by 15 publications

(6 citation statements)

References 14 publications

(23 reference statements)

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“…This can now be performed by automated sequencing methods, [50,51] with linked computer analysis. This technique is most commonly used after other approaches have failed to identify a mutation on at least one known 21-hydroxylase deficiency allele, but it has also been used for some population based studies.…”

Section: Dna Sequencingmentioning

confidence: 99%

Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia

Speiser

2001

American Journal of PharmacoGenomics

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Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid biosynthesis most often attributable to mutations in CYP21 (also termed CYP21A2) encoding the active steroid 21-hydroxylase enzyme. This review focuses on clinical and genetic aspects of CAH, and updates the reader on current methodology and applications for molecular genetic diagnosis. Genotyping patients with CAH has revealed > 50 mutations within CYP21, yet only 10 mutations account for approximately 95% of affected alleles. Many CYP21 mutations are gene conversions arising via transfer of gene sequences between the non-functional CYP21 pseudogene and CYP21. Phenotype is generally well-correlated with genotype. Historically, CAH has been divided into 3 types of disease: classic salt-wasting, classic simple virilizing (non-salt-wasting), and nonclassic. Recent findings support the notion that rather than discrete phenotypic categories, CAH is better represented as a continuum of phenotypes, from severe to mild. Molecular genetic diagnosis is most effectively employed now in prenatal diagnosis of classic CAH. As newborn screening for CAH becomes more widespread, genotyping may be implemented to resolve diagnostic difficulties encountered with hormonal testing. As automated methods of DNA diagnosis such as microarrays or gene chips are refined, it is likely that genetic screening will become less expensive and more readily available. The clinician should be aware of the potential for both false negatives and false positives with PCR-based gene screening. In short, whereas molecular genetic diagnosis is a valuable tool, it cannot replace clinical acumen and hormonal assays.

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Section: Dna Sequencingmentioning

confidence: 99%

Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia

Speiser

2001

American Journal of PharmacoGenomics

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“…Solid-phase minisequencing was used to screen CYP21 for seven known point mutations: P30L, I2-splice, I172N, Cluster-E6, V281L, Q318X, and R356W [Ohlsson and Schwartz, 1997]. Deletion of CYP21 was detected by Southern blot technique performed as previously described [White et al, 1986;Owerbach et al, 1990].…”

Section: Mutation Analysismentioning

confidence: 99%

Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

et al. 1999

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“…The father was not examined. The CYP21A2 gene, encoding for the 21-hydroxylase enzyme, was PCR amplified in two segments as described by Ohlsson and Schwartz [10] using Expand Long Template PCR System (Boehringer Mannnheim). PCR products were visualized on a 1% ethidium bromide stained agarose gel and purified with JET quick from Genomed.…”

Section: Case Reportmentioning

confidence: 99%

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

Massa

Gillis

Schwartz

2011

Case Reports in Genetics

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A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and a R339H mutation in exon 8, both reported in the nonclassic CAH. An early moustache, for which the term premature moustache can be coined, can be the presenting symptom of nonclassic CAH. In all children presenting with a sex or age inappropriate development of a moustache, an endocrine evaluation is indicated.

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Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing

Cited by 15 publications

References 14 publications

Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia

Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia

Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2Gene

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