Non-classical 21-hydroxylase deficiency of a pedigree and related literature review
10.3760/cma.j.issn.1000-6699.2019.10.005
- VernacularTitle:非经典21-羟化酶缺乏症的家系研究及相关文献复习
- Author:
Xinling WANG
1
;
Fangyu ZHAO
;
Jimilanmu Maimaitiming
;
Yuan CHEN
;
Yanying GUO
Author Information
1. 新疆维吾尔自治区人民医院内分泌科
- Keywords:
Congenital adrenal hyperplasia;
Non-classical 21-hydroxylase deficiency;
CYP21A2 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(10):838-842
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a patient with non-classical 21-hydroxylase deficiency ( 21-OHD) were retrospectively analyzed. The CYP21A2 gene analysis was performed on the patient and his family members by PCR-DNA direct sequencing. It was found that the proband had a heterozygous mutation [ point mutation:p.Ile173Asn, p. ( Ile237Asn, Val238Glu, Met240Lys ), p. Val282Leu, p. Gln319Ter, p. Arg357Trp, insertion mutation: p.Leu308Phefs?6, deletion/insert mutation: p. Arg484Profs]. Among the members of the family, the patient's eldest sister and three paternal members all carried the p.Val282Leu heterozygous mutation, and the patient's second sister and two maternal members carried the same p. Val282Leu homozygous mutation and other compound heterozygous mutations just as the proband. The proband presented a non-classical phenotype with ultimately normal height and fertility. It is suggested that the potential phenotype of the disease is related to the residual activity of its allele, and there exists a good genotype-phenotype correlation.
