ECE2022 Eposter Presentations Adrenal and Cardiovascular Endocrinology (131 abstracts)
The spectrum of CYP21A2 copy number variations and gene mutations by MLPA in a pediatric Romanian population with 21-hydroxylase deficiency
Sorina Schipor 1 , Ioana Nedelcu 1 , Camelia Procopiuc 1 , Elena Braha 1 , Madalina Boboc 1 , Andreea Brehar 1 , Andrei Muresan 1 , Alina Dumitrica 1 , Oana-Monica Popa 1 , Andra Caragheorgheopol 1 , Dana Manda 1 , Susana Vladoiu 1 & Iuliana Gherlan 1,2
1C.I. Parhon National Institute of Endocrinology, Research Department, Bucureşti, Romania; 2Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.
Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean±S.D.). All clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leukocytes, and copy number variations along with several point mutations of CYP21A2 gene were detected by multiple ligation-dependent probe amplification (MLPA) using MRC-Holland SALSA MLPA P050-C1 kit and Coffalyser.net software. The study has been approved by Ethical Committee of the Institute.
Results: Clinical and biochemical phenotype revealed 13 patients (54.17%) with classic and 11 patients (45.83%) with non-classic form of 21-OHD. Salt-wasting phenotype was diagnosed in 8 patients in whom MLPA analysis results were: large deletion/rearrangement in CYP21A2 (2 patients with homozygous CYP21A2 deletion and 2 patients with fused CYP21A1P/CYP21A2 gene (chimeras)); 2 patients with heterozygous g.655A/C>G (I2G) mutation, 1 patient compound heterozygous for P31L/I172N and one patient heterozygous for I172N mutation. In 5 patients with classic simple virilizing 21-OHD MLPA analysis showed: CYP21A1P deletion (2 patients), CYP21A1P duplication (1 patient), I2G/I172N (2 patients). The MLPA analysis in the remaining 11 patients with non-classic form of 21-OHD indicated: heterozygous gene deletion and I172N mutation (2 patients), partial CYP21A1P deletion (1 patient), CYP21A2 duplication (1 patient), CYP21A1P duplication (1 patient), homozygous mutation I172N and a heterozygous P31L mutation (1 patient), with a normal profile in 5 patients.
Conclusions: Copy number variation analysis is a very useful tool in 21-OHD molecular diagnosis, especially in classic salt-wasting patients but a complete precise diagnosis should be complemented by CYP21A2 sequencing analysis.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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