CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described i...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426921000227 |
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| author | Andrés Umaña-Calderón María José Acuña-Navas Danny Alvarado Mildred Jiménez Fred Cavallo-Aita |
| author_facet | Andrés Umaña-Calderón María José Acuña-Navas Danny Alvarado Mildred Jiménez Fred Cavallo-Aita |
| author_sort | Andrés Umaña-Calderón |
| collection | DOAJ |
| description | Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies. In Costa Rica, there is no data about the genetic background of these patients, nor their phenotypic correlation. Design: Observational, retrospective, descriptive study based on the review of patient records who had a diagnosis of CAH and were performed molecular analysis using gene sequencing or MLPA during the period from 2006 to 2018 (N = 58). Objective: To describe the clinical and genetic characteristics of CAH patients due to 21-hydroxylase deficiency at the National Children's Hospital “Dr. Carlos Sáenz Herrera”, Caja Costarricense de Seguro Social (CCSS) in Costa Rica. Results: 53% (31/58) of the patients were male and 80% (37/46) were born full term; 72% (42/58) had salt wasting phenotype, 9% (5/58) simple virilizing phenotype and 19% (11/58) non-classic phenotype. The most frequent variants were c.292+5G>A in 26% (15/58) of patients and Del/Del in 21% (12/58) of them. Conclusions: The most frequent mutation in our study population was the c.292+5G>A, which was found in 15/58 patients. This rare variant has only been reported in three other studies so far but as an infrequent mutation in CAH patients. The genetic characteristics of Costa Rican patients differ from what has been documented worldwide and could respond to a founder effect. |
| first_indexed | 2024-12-17T07:53:10Z |
| format | Article |
| id | doaj.art-03aa07d373dd45db9c885f06b88ee6ec |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-17T07:53:10Z |
| publishDate | 2021-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-03aa07d373dd45db9c885f06b88ee6ec2022-12-21T21:57:47ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-06-0127100728CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa RicaAndrés Umaña-Calderón0María José Acuña-Navas1Danny Alvarado2Mildred Jiménez3Fred Cavallo-Aita4Dept of Ped, National Children's Hospital, Caja Costarricense de Seguro Social, Costa Rica; Corresponding author at: Hospital Nacional de Niños, Dr. Carlos Sáenz Herrera, Calle 20 avenida cero, 10103 San José, Costa Rica.Dept of Ped, National Children's Hospital, Caja Costarricense de Seguro Social, Costa RicaMolec Division, National Newborn Screening Laboratory, Caja Costarricense de Seguro Social, Costa RicaMolec Division, National Newborn Screening Laboratory, Caja Costarricense de Seguro Social, Costa RicaDept of Endocrinology, National Children's Hospital, Caja Costarricense de Seguro Social, Costa RicaSteroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies. In Costa Rica, there is no data about the genetic background of these patients, nor their phenotypic correlation. Design: Observational, retrospective, descriptive study based on the review of patient records who had a diagnosis of CAH and were performed molecular analysis using gene sequencing or MLPA during the period from 2006 to 2018 (N = 58). Objective: To describe the clinical and genetic characteristics of CAH patients due to 21-hydroxylase deficiency at the National Children's Hospital “Dr. Carlos Sáenz Herrera”, Caja Costarricense de Seguro Social (CCSS) in Costa Rica. Results: 53% (31/58) of the patients were male and 80% (37/46) were born full term; 72% (42/58) had salt wasting phenotype, 9% (5/58) simple virilizing phenotype and 19% (11/58) non-classic phenotype. The most frequent variants were c.292+5G>A in 26% (15/58) of patients and Del/Del in 21% (12/58) of them. Conclusions: The most frequent mutation in our study population was the c.292+5G>A, which was found in 15/58 patients. This rare variant has only been reported in three other studies so far but as an infrequent mutation in CAH patients. The genetic characteristics of Costa Rican patients differ from what has been documented worldwide and could respond to a founder effect.http://www.sciencedirect.com/science/article/pii/S2214426921000227Congenital adrenal hyperplasia21-hydroxylaseCYP21A2c.292+5G>AIVS2+5G>A |
| spellingShingle | Andrés Umaña-Calderón María José Acuña-Navas Danny Alvarado Mildred Jiménez Fred Cavallo-Aita CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica Molecular Genetics and Metabolism Reports Congenital adrenal hyperplasia 21-hydroxylase CYP21A2 c.292+5G>A IVS2+5G>A |
| title | CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica |
| title_full | CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica |
| title_fullStr | CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica |
| title_full_unstemmed | CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica |
| title_short | CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica |
| title_sort | cyp21a2 mutations in pediatric patients with congenital adrenal hyperplasia in costa rica |
| topic | Congenital adrenal hyperplasia 21-hydroxylase CYP21A2 c.292+5G>A IVS2+5G>A |
| url | http://www.sciencedirect.com/science/article/pii/S2214426921000227 |
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