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http://purl.uniprot.org/citations/16046588http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16046588http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16046588http://www.w3.org/2000/01/rdf-schema#comment"

Context

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene.

Objective

The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase deficiency), to determine the frequency of mutations in the CYP21A2 gene and attempt a genotype-phenotype correlation in patients with 21-hydroxylase deficiency.

Design

Molecular analysis was performed by direct sequencing of PCR amplified products of the CYP21A2 and CYP11B1 genes.

Results

The most frequent mutation in Romanian patients with 21-hydroxylase deficiency was I2G (43.9%), followed by deletions and large conversions (16.7%), I172N and the triple mutation (P30L+I2G+del8bp), accounting for 12.1% each, P30L (7.6%) and R356W (1.5%). Genotypes were categorized in three mutation groups (0, A, and B), according to their predicted functional consequences, and compared with clinical phenotype. Positive predictive values were 100, 75, and 100% for groups 0, A, and B, respectively. Overall genotype-phenotype correlation was 87.88%. In the five patients with 11beta-hydroxylase deficiency, the following homozygous mutations were identified: T318R in two related patients; R448H in two unrelated patients; and P94L, a new, yet-undescribed mutation.

Conclusion

The present study is the first countrywide report of mutational analysis in a Romanian patient population with 21-hydroxylase deficiency. Molecular diagnosis was performed in a small number of CAH patients proved not to suffer from 21-hydroxylase deficiency but from 11beta-hydroxylase deficiency, and a new mutation was identified."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.org/dc/terms/identifier"doi:10.1210/jc.2005-0379"xsd:string
http://purl.uniprot.org/citations/16046588http://purl.org/dc/terms/identifier"doi:10.1210/jc.2005-0379"xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Heinrich U."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Heinrich U."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Schulze E."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Schulze E."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Weber M.M."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Weber M.M."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Clausmeyer S."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Clausmeyer S."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Grigorescu Sido A."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Grigorescu Sido A."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Grigorescu Sido P."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/author"Grigorescu Sido P."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/name"J. Clin. Endocrinol. Metab."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/name"J. Clin. Endocrinol. Metab."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/pages"5769-5773"xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/pages"5769-5773"xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/title"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."xsd:string
http://purl.uniprot.org/citations/16046588http://purl.uniprot.org/core/title"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."xsd:string
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