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首页> 外文期刊>Case Reports in Genetics >Isolated p.H62L Mutation in theCYP21A2Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
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Isolated p.H62L Mutation in theCYP21A2Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

机译：CYP21A2基因在一个简单的男性化21-羟化酶缺陷患者中的分离的p.H62L突变。

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摘要

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. Most of the disease-causing mutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the activeCYP21A2gene and its homologous CYP21A1P pseudogene. Nevertheless, an increasing number of naturally occurring mutations have been found. The change p.H62L is one of the most frequent rare mutations of theCYP21A2gene. It was suggested that the p.H62L represents a mild mutation that may be responsible for a more severe enzymatic impairment when presented with another mild mutation on the same allele. In this report, a 20-year-old woman carrying an isolated p.H62L mutation in compound heterozygosity with c.283-13A/C>G mutation is described. Although a mildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistent with a more severe simple virilizing form of 21-hydroxylase deficiency. The study of genotype-phenotype correlation in additional patients would help in defining the role of p.H62L in disease manifestation.
机译：21-羟化酶缺乏症引起的先天性肾上腺增生占病例的90％–95％。这种常染色体隐性遗传疾病具有广泛的临床形式，从严重的或经典的形式，包括消盐和简单的男性化形式，到轻度的迟发性或非经典形式。所描述的大多数致病突变很可能是由于活性CYP21A2基因与其同源CYP21A1P假基因之间发生非同源重组或基因转化事件的结果。然而，已经发现越来越多的天然突变。 p.H62L的变化是CYP21A2基因最常见的罕见突变之一。有人提出，p.H62L代表一个轻度突变，当在同一等位基因上出现另一个轻度突变时，可能导致更严重的酶促损​​伤。在此报告中，描述了一名20岁妇女，其携带的复合杂合性中带有p.H62L突变，具有c.283-13A / C> G突变。尽管预期会出现轻度的非经典表型，但患者的临床体征和激素状况与21-羟化酶缺乏症的更严重的简单病毒化形式一致。对其他患者的基因型-表型相关性的研究将有助于确定p.H62L在疾病表现中的作用。

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