title: Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.
abstract: The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, SP, Brasil.
authors.forename: Fernanda Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: Lúcio Fábio Caldas
authors.initials: LF
authors.lastname: Ferraz
authors.forename: Sofia H V de
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: Sumara Zuanazi Pinto
authors.initials: SZ
authors.lastname: Rigatto
authors.forename: Vera Maria Santoro
authors.initials: VM
authors.lastname: Belangero
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: de-Mello
mesh_terms: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2 / Q000235:genetics*; D000595:Amino Acid Sequence; D002675:Child, Preschool; D003241:Consanguinity; D006720:Homozygote; D006801:Humans; D008297:Male; D043204:Mineralocorticoid Excess Syndrome, Apparent / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2