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

Journal of Clinical Endocrinology and Metabolism

Volumn 80, Issue 7, 1995, Pages 2186-2189

  Tsigos, Constantine ^a   Arai, Keiko ^a   Latronico, Claudia ^a   DiGeorge, Angelo M ^b   Rapaport, Robert ^c   Chrousos, George P ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OF NEW JERSEY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CORTICOTROPIN RECEPTOR;

ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ESOPHAGUS ACHALASIA; FEMALE; GENE MUTATION; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADENINE; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CELL MEMBRANE; CYSTEINE; DNA; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GLUCOCORTICOIDS; GUANINE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CORTICOTROPIN; SYNDROME; TYROSINE;

EID: 0029029505     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.7.7608277     Document Type: Article

References (29)

1. Sheppard TH, Landing BH, Mason DG. 1959 Familial Addison's disease. Case report of two sisters with corticoid deficiency unassociated with hypoaldosteronism. J Dis Child. 97:154-162.
2. Migeon CJ, Kenny FM, Kowarski A, et al. 1968 The syndrome of congenital unresponsiveness to ACTH. Report of six cases. Pediatr Res. 2:501-513.
3. Thistletwaite D, Darling JAB, Fraser R, Mason PA, Rees LH, Harkness RA. 1975 Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. Arch Dis Child. 50:291-297.
4. Allgrove J, Clayden GS, Grant BD, Macaulay JC. 1978 Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1:1284-1286.
5. Geffner ME, Lippe BM, Kaplan SA, et al. 1983 Selective ACTH insensitivity, achalasia, and alacrima: A multi-system disorder presenting in childhood. Pediatr Res. 17:532-536.
6. Moore PSJ, Couch RM, Perry YS, Shuckett EP, Winter JSD. 1991 Allgrove syndrome: An autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol (Oxf). 34: 107-114.
7. Kelch RP, Kaplan SL, Biglieri FG, Daniels GH, Epstein CJ, Grumbach MM. 1972 Hereditary adrenocortical unresponsiveness to adrenocorticotropin hormone.] Pediatr. 81:726-736.
8. Spark RF, Etzkom JR. 1977 Absent aldosterone response to ACTH in familial glucocorticoid deficiency. N Engl J Med. 297:917-920.
9. Tsigos C, Arai K, Hung W, Chrousos GP. 1993 Hereditary isoalated glucocorticoid deficiency associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. 92:2458-2461.
10. Tsigos C, Arai K, Latronico AC, Webster E, Chrousos GP. Receptors for melanocortin peptides in the hypothalamic-pituitary adrenal axis and skin. Ann NY Acad Sci. In press.
11. Clark AJL, McLoughlin L, Grossman A. 1993 Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. 341:461-462.
12. Weber A, Clark AJL. 1994 Mutations of the ACTH receptor gene are onlv one causc of familial glucocorticoid deficiency. Hum Mol Genet. 000:3585-588.
13. Weber A, Toppari J, Harvey RD, et al. 1995 Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab. 80:65-71.
14. Clark AJL, Weber A. 1994 Molecular insights into inherited ACTH-resistance syndromes. Trends Endocrinol Metab. 5:209-214.
15. Vamvakopoulos NC, Durkin S, Nierman W, Chrousos GP. 1993 Mapping of the human adrenocorticotropin hormone receptor (ACTH-R) gene to the small arm of chromosome 18 (18p. 11.21-pter.). Genomics. 18:454-455.
16. Heinrichs C, Tsigos C, Deschepper J, et al. 1995 Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity. Eur J Paediatr. 154:191-196.
17. Kadowaki T, Kadowaki H, Taylor SL 1990 A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc Natl Acad Sci USA. 87:658-663.
18. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. 1992 The cloning of a family of genes that encode the melanocortin receptors. Science. 257:1248-1251.
19. van den Ouweland AMW, Dreesen JCFM, Verdijk M, el al. 1992 Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genet. 2:99-102.
20. Pan Y, Metzenberg A, Das S, Jing B, Gitschier J. 1992 Mutations in the V2 vasopressin receptor gene are associated with X-!inked nephrogenic diabetes insipidus. Nature Genet. 2:103-106.
21. De Wied D. 1990 Neurotropic effects of ACTH/MSH neuropeptides. Acta Neurobiol Exp. 50:353-366.
22. Jahn R, Padel U, Porsch P-H, Soling H-D. 1982 Adrenocorticotropin hormone and a-melanocyte-stimulating hormone induce secretion and protein phosphorylation in the rat lacrimal gland by activation of cAMP-dependent pathway. Eur J Biochem. 126:623-629.
23. Gantz I, Konda Y, Tashiro T, et al. 1993 Molecular cloning of a novel melanocortin receptor. J Biol Chem. 268:8246-8250.
24. Gantz I, Miwa H, Konda Y, et al. 1993 Molecular cloning, expression, and gene localization of a fourth melanocortin receptor.] Biol Chem. 268:15174-15179.
25. Mountjoy KG, Mortrud MT, Low MJ, Simerly RB, Cone RD. 1994 Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain. Mol Endocrinol. 8:1298-1308.
26. Gantz I, Shimoto Y, Konda Y, et al. 1994 Molecular cloning, expression, and characterization of a fifth melanocortin receptor. Biochem Biophys Res Commun. 200:1214-1220.
27. Labbe O, Desamaud F, Eggerickx D, Vassart G, Parmentier M. 1994 Cloning of a mouse melanocortin 5 receptor gene widely expressed in peripheral tissues. Biochemistry. 33:4543-4549.
28. Stuckey BG, Mastaglia FL, ReedWD, Pullan PT. 1993 Glucocorticoid insufficiency, achalasia, alacrima with autonomic and motor neuropathy. Ann Intern Med. 106:62-64.
29. Grant DB, Bames ND, Dumic M, et al. 1993 Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 68:779-782.