Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation

Hormone Research

Volumn 69, Issue 6, 2008, Pages 363-368

  Mazur, Artur ^a   Koehler, Katrin ^b   Schuelke, Markus ^c   Skunde, Mandy ^b   Ostański, Mariusz ^a   Huebner, Angela ^b  

^a UNIVERSITY OF RZESZÓW   (Poland)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Familial glucocorticoid deficiency; Hereditary unresponsiveness to ACTH; Isolated glucocorticoid deficiency; MC2R

Indexed keywords

HYDROCORTISONE; LEVOTHYROXINE; MELANOCORTIN 2 RECEPTOR; THYROTROPIN;

ADRENAL INSUFFICIENCY; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CONSTIPATION; CONTROLLED STUDY; DISEASE COURSE; ENDOCRINE DISEASE; FAMILIAL DISEASE; FAMILY STUDY; FRAMESHIFT MUTATION; GAS CHROMATOGRAPHY; GENE MUTATION; GLUCOCORTICOSTEROID DEFICIENCY; HORMONE BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERPIGMENTATION; INFANT; JAUNDICE; KARYOTYPE 46,XY; MALE; MASS SPECTROMETRY; MENTAL DEVELOPMENT; MOLECULAR MODEL; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHYSICAL DEVELOPMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SEQUENCE HOMOLOGY; SKIN PIGMENTATION; THYROTROPIN BLOOD LEVEL;

ADRENOCORTICOTROPIC HORMONE; AMINO ACID SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GLUCOCORTICOIDS; HETEROZYGOTE; HUMANS; HYDROCORTISONE; INFANT; MALE; MOLECULAR SEQUENCE DATA; RECEPTOR, MELANOCORTIN, TYPE 2; SEQUENCE HOMOLOGY, AMINO ACID; STEROID METABOLISM, INBORN ERRORS; THYROTROPIN;

EID: 44949217618     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000117393     Document Type: Article

References (22)

1. Shepard TH, Landing BH, Mason DG: Familial Addison's disease: case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. Am J Dis Child 1959;97:154-162.
2. Weber A, Clark AJ: Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet 1994;4:585-588.
3. Weber A, Toppari J, Harvey R, Klann RC, Shaw NJ, Ricker AT, Nanto-Salonen K, Bevan JS, Clark AJ: Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 1995;80:65-71.
4. Clark AJ, Weber A: Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;19:828-843.
5. Clark AJ, Metherell LA, Naville D, Begeot M, Huebner A: Genetics of ACTH insensitivity syndromes. Ann Endocrinol (Paris) 2005;66:247-249.
6. Metherell LA, Chan LF, Clark AJ: The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab 2006;20:547-560.
7. Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ: Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005;37:166-170.
8. Genin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Begeot M, Naville D: Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet 2002;111:428-434.
9. Prusis P, Schiöth HB, Muceniece R, Herzyk P, Afshar M, Hubbard RE, Wikberg JE: Modeling of the three-dimensional structure of the human melanocortin 1 receptor using an automated method and docking of a rigid cycling melanocyte-stimulating hormone core peptide. J Mol Graph Model 1997;15:307-317.
10. Skrabanek L, Campagne F, Weinstein H: Building protein diagrams on the web with the residue-based diagram editor RbDe. Nucleic Acids Res 2003;31:3856-3858.
11. Elias LL, Huebner A, Pullinger GD, Mirtella A, Clark AJ: Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. J Clin Endocrinol Metab 1999;84:2766-2770.
12. Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez JM, Begeot M: Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab 1996;81:1442-1448.
13. Naville D, Weber A, Genin E, Durand P, Clark AJ, Begeot M: Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). J Clin Endocrinol Metab 1998;83:3592-3596.
14. Huebner A, Elias LL, Clark AJ: ACTH resistance syndromes. J Pediatr Endocrinol Metab 1999;12(suppl 1):277-293.
15. Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani C, Clayton PL, Savage MO, Clark AJ: Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxf) 2000;53:423-430.
16. Imamine H, Mizuno H, Sugiyama Y, Ohro Y, Sugiura T, Togari H: Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med 2005;205:123-131.
17. Sheehan AG, Martin SR, Stephure D, Scott RB: Neonatal cholestasis, hypoglycemia, and congenital hypopituitarism. J Pediatr Gastroenterol Nutr 1992;14:426-430.
18. Choo-Kang LR, Sun CC, Counts DR: Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism. J Clin Endocrinol Metab 1996;81:2786-2789.
19. Leblanc A, Odievre M, Hadchouel M, Gendrel D, Chaussain JL, Rappaport R: Neonatal cholestasis and hypoglycemia: possible role of cortisol deficiency. J Pediatr 1981;99:577-580.
20. Lacy DE, Nathavitharana KA, Tarlow MJ: Neonatal hepatitis and congenital insensitivity to adrenocorticotropin (ACTH). J Pediatr Gastroenterol Nutr 1993;17:438-440.
21. Tiosano D, Pannain S, Vassart G, Parma J, Gershoni-Baruch R, Mandel H, Lotan R, Zaharan Y, Pery M, Weiss RE, Refetoff S, Hochberg Z: The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid 1999;9:887-894.
22. Clark AJL, Metherell LA, Cheetham ME, Huebner A: Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab 2006;16:451-457.