在一名越南 11β-羟化酶缺乏症患者中发现 CYP11B1 基因中的新型纯合 p.Y395X 突变。
Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
机构信息
Institute of Biotechnology, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet, Hanoi, Vietnam.
出版信息
Gene. 2012 Nov 10;509(2):295-7. doi: 10.1016/j.gene.2012.08.009. Epub 2012 Aug 17.
CONTEXT
The deficiency of steroid 11β-hydroxylase is caused by mutations in the CYP11B1 gene and is the second major form of congenital adrenal hyperplasia associated with hypertension.
OBJECTIVE
The objective of this study was to screen the CYP11B1 gene for mutations in one Vietnamese male suffering from congenital adrenal hyperplasia.
PATIENT
The patient (46,XY) had congenital adrenal hyperplasia. The clinical manifestations presented precocious puberty, hyper-pigmentation and high blood pressure at 4 years.
RESULTS
The patient was a homozygous carrier of a novel mutation located in exon 7 containing a premature stop codon instead of tyrosine at 395 (p.Y395X).
CONCLUSION
We have identified a novel mutant of the CYP11B1 gene in one Vietnamese family associated with phenotypes of congenital adrenal hyperplasia. The mutant gene p.Y395X produces a truncated form of the polypeptide and abolishes the enzyme activities, leading to a severe phenotype of congenital adrenal hyperplasia.
背景
类固醇 11β-羟化酶的缺乏是由 CYP11B1 基因突变引起的，是与高血压相关的第二种主要的先天性肾上腺增生形式。
目的
本研究旨在对一名患有先天性肾上腺增生的越南男性的 CYP11B1 基因进行突变筛查。
患者
患者（46,XY）患有先天性肾上腺增生。临床表现为 4 岁时性早熟、色素沉着和高血压。
结果
患者为位于外显子 7 中的新型突变的纯合子携带者，该突变包含一个提前终止密码子，而不是 395 位的酪氨酸（p.Y395X）。
结论
我们在一个越南家庭中发现了 CYP11B1 基因的一种新型突变，与先天性肾上腺增生的表型相关。突变基因 p.Y395X 产生截短形式的多肽并使酶活性丧失，导致先天性肾上腺增生的严重表型。
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