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.

中文翻译：

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罕见的CYP21A2单倍型阐明了意大利非经典先天性肾上腺皮质增生（NC-CAH）患者的表型-基因型差异。

具有两个CYP21A2基因拷贝和一个CYP21A1P假基因拷贝的RCCX单倍型已在不同人群中广泛描述。在大多数情况下，TNXA基因下游的CYP21A2类基因显示野生型序列或c.293-13A / C> G变异体，而TNXB旁的CYP21A2基因携带p。（Gln319Ter）变异体。这是在患有非经典先天性肾上腺皮质增生（NC-CAH）的意大利患者中检测到的新型罕见CYP21A2单倍型的发现。进行了分子家族研究，以澄清先前发现的表型-基因型差异。