A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase

Clin Genet. 2021 Nov;100(5):634-636. doi: 10.1111/cge.14035. Epub 2021 Aug 9.

Authors

María Arriba^{1

2}, Josep Oriola^{3

4}, Begoña Ezquieta^{1

2}

Affiliations

¹ Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
² Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
³ Biochemistry and Molecular Genetics Service, CDB, Clinic Hospital, Barcelona, Spain.
⁴ Department of Biomedicine, Faculty of Medicine, University of Barcelona, Spain.

PMID: 34370296
DOI: 10.1111/cge.14035

No abstract available

Publication types

Letter

MeSH terms

Alleles
Family
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Mutation*
Phenotype*
RNA Splice Sites*
RNA, Messenger*
Steroid 21-Hydroxylase / genetics*
Steroid 21-Hydroxylase / metabolism

Substances

RNA Splice Sites
RNA, Messenger
CYP21A2 protein, human
Steroid 21-Hydroxylase