Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

doi:10.1515/jpem.2011.024

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Article

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2011

Aza-Carmona Miriam, Barreda-Bonis Ana Coral, Guerrero-Fernández Julio, González-Casado Isabel, Gracia Ricardo, Heath Karen E

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. A 2-year-old adopted Chinese girl presented with hypertonic seizures associated with hypoglycemia, skin hyperpigmentation, muscle weakness and...

Topics

Alleles
Amino Acid Sequence
Amino Acid Substitution
Asian People
Base Sequence
Child, Preschool
DNA
DNA Mutational Analysis
Female
Glucocorticoids
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hydrocortisone

Molecular Sequence Data

Mutation, Missense

Receptor, Melanocortin, Type 2

Sequence Homology, Amino Acid

Source

Open in PubMed

Identifiers

PMID: 21823545
DOI: 10.1515/jpem.2011.024

Genes

MRAP

Variants

Provenance

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