A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome
| ISSN: | 1945-7197 0021-972X |
|---|---|
| DOI: | 10.1210/jcem.80.7.7608277 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc193661cb57e996639213f5337ad4c https://doi.org/10.1210/jcem.80.7.7608277 |
| Přírůstkové číslo: | edsair.doi.dedup.....0cc193661cb57e996639213f5337ad4c |
| Autor: | Ana Claudia Latronico, Angelo M. Digeorge, Constantine Tsigos, Robert Rapaport, George P. Chrousos, Keiko Arai |
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male medicine.medical_specialty Guanine Allgrove Syndrome Adolescent Endocrinology Diabetes and Metabolism Molecular Sequence Data Clinical Biochemistry Genes Recessive Gene mutation Triple-A syndrome Polymerase Chain Reaction Biochemistry Immunoglobulin D Alacrima Protein Structure Secondary Endocrinology Internal medicine medicine Humans Point Mutation ACTH receptor Amino Acid Sequence Cysteine Glucocorticoids DNA Primers Base Sequence biology Adenine Genetic Carrier Screening Point mutation Cell Membrane Homozygote Biochemistry (medical) Genetic Diseases Inborn DNA Syndrome Middle Aged medicine.disease Pedigree Receptors Corticotropin biology.protein Tyrosine Female Isolated Glucocorticoid Deficiency hormones hormone substitutes and hormone antagonists |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem.80.7.7608277 |
| Popis: | Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 families with triple A syndrome. The proband with IGD was a homozygote for an A-->G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. |
| Databáze: | OpenAIRE |
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