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Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Clin Chim Acta. 2014 Nov 01; 437:48-51.CC

Abstract

CONTEXT

Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.

OBJECTIVES

We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like gene to explain the lack of a genotype-phenotype correlation in individuals of two different families.

DESIGN AND METHODS

To verify gene duplication we used Multiplex Ligation Probe-Dependent Amplifications (MLPA) and to confirm the presence of a CYP21A2-like gene downstream TNXA gene we used previously described amplification and restriction strategy followed by the sequencing of the CYP21A2 gene downstream TNXB gene.

RESULTS

The amplification strategy and restriction analysis of CYP21A1P/CYP21A2-TNXA PCR product in association with MLPA assay and sequencing of CYP21A2 gene downstream TNXB were able to identify the presence of the CYP21A2-like gene in healthy subjects of the two families, wherein the direct sequencing of CYP21A2 gene showed genotypes correlated to pathological phenotypes.

CONCLUSIONS

The strategy suggested is useful to facilitate molecular testing in CAH patients, considering the new evidence about possible different haplotypes.

Authors+Show Affiliations

Department of Clinical and Experimental Medicine, University of Foggia, Italy. Electronic address: leccese.angelica@tiscali.it.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.Department of Clinical and Experimental Medicine, University of Foggia, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25025300

Citation

Leccese, A, et al. "Lack of Genotypephenotype Correlation in Congenital Adrenal Hyperplasia Due to a CYP21A2-like Gene." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 437, 2014, pp. 48-51.
Leccese A, Longo V, Dimatteo C, et al. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. Clin Chim Acta. 2014;437:48-51.
Leccese, A., Longo, V., Dimatteo, C., De Girolamo, G., Trunzo, R., D'Andrea, G., Bafunno, V., Margaglione, M., & Santacroce, R. (2014). Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. Clinica Chimica Acta; International Journal of Clinical Chemistry, 437, 48-51. https://doi.org/10.1016/j.cca.2014.07.009
Leccese A, et al. Lack of Genotypephenotype Correlation in Congenital Adrenal Hyperplasia Due to a CYP21A2-like Gene. Clin Chim Acta. 2014 Nov 1;437:48-51. PubMed PMID: 25025300.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. AU - Leccese,A, AU - Longo,V, AU - Dimatteo,C, AU - De Girolamo,G, AU - Trunzo,R, AU - D'Andrea,G, AU - Bafunno,V, AU - Margaglione,M, AU - Santacroce,R, Y1 - 2014/07/12/ PY - 2014/03/30/received PY - 2014/07/07/revised PY - 2014/07/07/accepted PY - 2014/7/16/entrez PY - 2014/7/16/pubmed PY - 2015/5/13/medline KW - 21-hydroxylase deficiency (21OHD) KW - CYP21A2-like gene KW - Genotype–phenotype correlation KW - Molecular diagnosis SP - 48 EP - 51 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 437 N2 - CONTEXT: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes. OBJECTIVES: We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like gene to explain the lack of a genotype-phenotype correlation in individuals of two different families. DESIGN AND METHODS: To verify gene duplication we used Multiplex Ligation Probe-Dependent Amplifications (MLPA) and to confirm the presence of a CYP21A2-like gene downstream TNXA gene we used previously described amplification and restriction strategy followed by the sequencing of the CYP21A2 gene downstream TNXB gene. RESULTS: The amplification strategy and restriction analysis of CYP21A1P/CYP21A2-TNXA PCR product in association with MLPA assay and sequencing of CYP21A2 gene downstream TNXB were able to identify the presence of the CYP21A2-like gene in healthy subjects of the two families, wherein the direct sequencing of CYP21A2 gene showed genotypes correlated to pathological phenotypes. CONCLUSIONS: The strategy suggested is useful to facilitate molecular testing in CAH patients, considering the new evidence about possible different haplotypes. SN - 1873-3492 UR - https://www.unboundmedicine.com/medline/citation/25025300/Lack_of_genotypephenotype_correlation_in_congenital_adrenal_hyperplasia_due_to_a_CYP21A2_like_gene_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(14)00296-4 DB - PRIME DP - Unbound Medicine ER -