Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene.
10.3760/cma.j.cn511374-20220902-00598
- VernacularTitle:CYP11B2/CYP11B1融合基因致11β羟化酶缺乏症1例的遗传学分析
- Author:
Yifan LIN
1
;
Haihua YANG
;
Shuxian YUAN
;
Dongxiao LI
;
Haiyan WEI
;
Xiaocui MA
Author Information
1. Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou, Henan 450018, China. haiyanwei2009@163.com.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
Humans;
Male;
Adrenal Hyperplasia, Congenital/genetics*;
Cytochrome P-450 CYP11B2/genetics*;
Exons;
Retrospective Studies;
Steroid 11-beta-Hydroxylase/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(4):462-467
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze a child with 11β hydroxylase deficiency (11β-OHD) due to CYP11B2/CYP11B1 chimeric gene.
METHODS:Clinical data of the child who was admitted to Henan Children's Hospital on August 24, 2020 were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RT-PCR and Long-PCR were carried out to verify the presence of chimeric gene.
RESULTS:The patient, a 5-year-old male, had featured premature development of secondary sex characteristics and accelerated growth, and was diagnosed with 21 hydroxylase deficiency (21-OHD). WES revealed that he has harbored a heterozygous c.1385T>C (p.L462P) variant of the CYP11B1 gene, in addition to a 37.02 kb deletion on 8q24.3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1385T>C (p.L462P) was rated as a likely pathogenic variant (PM2_Supporting+PP3_Moderate+PM3+PP4). The results of RT-PCR and Long-PCR suggested that CYP11B1 and CYP11B2 genes have recombined to form a CYP11B2 exon 1~7/CYP11B1 exon 7~9 chimeric gene. The patient was diagnosed as 11β-OHD and effectively treated with hydrocortisone and triptorelin. A healthy fetus was delivered following genetic counseling and prenatal diagnosis.
CONCLUSION:11β-OHD may be misdiagnosed as 21-OHD due to the potential CYP11B2/CYP11B1 chimeric gene, which will require multiple methods for the detection.
