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非经典的 21-羟化酶缺乏症:维吾尔族的突变基因分析和文献综述
Authors Maimaitiming J, Amuti G, TuHuTi A, Chen Y, Song XX, Wang J, Alimu A, Zhang K, Abudounaiyimu M, Jiang J, Wang XL, Guo YY
Received 22 December 2020
Accepted for publication 2 March 2021
Published 7 April 2021 Volume 2021:14 Pages 409—416
DOI https://doi.org/10.2147/PGPM.S297607
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Martin Bluth
Objective: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed.
Methods: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People’s Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed. The detected mutations were verified in nine members of the family.
Results: Gene-sequencing results revealed that the proband and the other three members of the family (proband, proband’s mother’s younger brother and the proband’s mother’s younger brother’s younger daughter, and proband’s second elder sister) shared the following mutations: Ile173Asn, Ile237Asn, Val238Glu, Met240Lys, Val282Leu, Leu308Phefs*6, Gln319Ter, Arg357Trp, and Arg484Profs. The Val282Leu mutation was heterozygous in the proband’s mother’s younger brother’s younger daughter, but homozygous in the other three individuals. The father of the proband, the elder brother of the father of the proband, the third younger brother of the father of the proband, and the elder sister of the proband all carried only the Val282Leu mutation.
Conclusion: Val282Leu is the gene responsible for non-classical 21-hydroxylase deficiency. Screening for this gene in the offspring of patients with non-classical 21-hydroxylase deficiency may help to identify cases early.
Keywords: congenital adrenal hyperplasia, non-classical 21-hydroxylase deficiency, CYP21A2 gene, gene mutation