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Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
Exp Clin Endocrinol Diabetes. 2012 Jan; 120(1):23-7.EC

Abstract

Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal hyperplasia (CAH) were included. Molecular analysis of CYP21A2 was performed, via the multiplex ligation-dependent probe amplification (MLPA) analysis and sequence-specific differenzial PCR amplification of the CYP21A2 and CYP21A1P genes, using 4 pair-wise sequence-specific primers, followed by sequencing of the entire CYP21A2 gene. Large gene deletions were identified in 45 (31.3%) of the 144 unrelated CAH alleles, whereas the most frequent point mutations were intron 2 splice mutations (c.293-13A>G) (41/144, 28.5%). The MLPA analysis successfully identified 23 of 72 patients (31.9%) with single copy deletion in CYP21A2. This paper describes a rapid and accurate method for the molecular diagnosis of 21-hydroxylase deficiency, which relies on the identification of point mutations and structural rearrangements within the CYP21A2 gene.

Authors+Show Affiliations

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22020670

Citation

Choi, J-H, et al. "Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients With Steroid 21-hydroxylase Deficiency." Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, vol. 120, no. 1, 2012, pp. 23-7.
Choi JH, Jin HY, Lee BH, et al. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes. 2012;120(1):23-7.
Choi, J. H., Jin, H. Y., Lee, B. H., Ko, J. M., Lee, J. J., Kim, G. H., Jung, C. W., Lee, J., & Yoo, H. W. (2012). Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 120(1), 23-7. https://doi.org/10.1055/s-0031-1287789
Choi JH, et al. Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients With Steroid 21-hydroxylase Deficiency. Exp Clin Endocrinol Diabetes. 2012;120(1):23-7. PubMed PMID: 22020670.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency. AU - Choi,J-H, AU - Jin,H-Y, AU - Lee,B H, AU - Ko,J M, AU - Lee,J-J, AU - Kim,G-H, AU - Jung,C-W, AU - Lee,J, AU - Yoo,H-W, Y1 - 2011/10/21/ PY - 2011/10/25/entrez PY - 2011/10/25/pubmed PY - 2012/5/9/medline SP - 23 EP - 7 JF - Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association JO - Exp Clin Endocrinol Diabetes VL - 120 IS - 1 N2 - Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal hyperplasia (CAH) were included. Molecular analysis of CYP21A2 was performed, via the multiplex ligation-dependent probe amplification (MLPA) analysis and sequence-specific differenzial PCR amplification of the CYP21A2 and CYP21A1P genes, using 4 pair-wise sequence-specific primers, followed by sequencing of the entire CYP21A2 gene. Large gene deletions were identified in 45 (31.3%) of the 144 unrelated CAH alleles, whereas the most frequent point mutations were intron 2 splice mutations (c.293-13A>G) (41/144, 28.5%). The MLPA analysis successfully identified 23 of 72 patients (31.9%) with single copy deletion in CYP21A2. This paper describes a rapid and accurate method for the molecular diagnosis of 21-hydroxylase deficiency, which relies on the identification of point mutations and structural rearrangements within the CYP21A2 gene. SN - 1439-3646 UR - https://www.unboundmedicine.com/medline/citation/22020670/Clinical_phenotype_and_mutation_spectrum_of_the_CYP21A2_gene_in_patients_with_steroid_21_hydroxylase_deficiency_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0031-1287789 DB - PRIME DP - Unbound Medicine ER -