A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)

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Abstract

RCCX haplotypes with two copies of the CYP21A2 gene and one copy of the CYP21A1P pseudogene have been widely described in different populations. In most cases, the CYP21A2-like gene downstream of the TNXA gene showed a wild-type sequence or the c.293-13A/C > G variant while the CYP21A2 gene next to TNXB carried the p.(Gln319Ter) variant. Here is the discovery of a novel rare CYP21A2 haplotypes detected in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH). The molecular family study was performed clarifying the previously found phenotype-genotype discrepancy.

Original languageEnglish
Pages (from-to)3049-3052
Number of pages4
JournalMolecular Biology Reports
Volume47
Issue number4
DOIs
Publication statusPublished - Apr 1 2020

Keywords

  • Congenital adrenal hyperplasia
  • CYP21A2
  • Mlecular diagnosis
  • RCCX haplotypes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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