A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 1, 2004, Pages 227-231

  Nystrom A M ^a   Bondeson, M L ^a   Skanke, N ^b   Martensson J ^a   Stromberg B ^a   Gustafsson, J ^a   Anneren G ^a,c  

^a UPPSALA UNIVERSITY   (Sweden)

^b Central Hospital of Eskilstuna   (Sweden)

^c UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

MINERALOCORTICOID RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILIAL DISEASE; FAMILY; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; LINKAGE ANALYSIS; MALE; NEUROPATHY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; PSEUDOHYPOALDOSTERONISM TYPE 1; SCHOOL CHILD; SODIUM DEFICIENCY; SWEDEN;

ADULT; AGED; CHILD; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 4; CODON, NONSENSE; EXONS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PSEUDOHYPOALDOSTERONISM; RECEPTORS, MINERALOCORTICOID; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 0842291486     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030762     Document Type: Article

References (33)

1. Kuhnle U, Nielsen MD, Tietze HU, Schroeter CH, Schlamp D, Bosson D, Knorr D, Armanini D 1990 Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J Clin Endocrinol Metab 70:638-641
2. Hanukoglu A 1991 Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 73:936-944
3. Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP 1996 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12: 248-253
4. Strautnieks SS, Thompson RJ, Gardiner RM, Chung E 1996 A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 13:248-250
5. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, MacLaughlin E, Barker P, Nash M, Quittell L, Boucher R, Knowles MR 1999 Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 341:156-162
6. Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, Holmberg L 1999 Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr 135:739-745
7. Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, Tajima T, Fujieda K 2001 Compound heterozygous mutations in the γ-subunit gene of ENaC (1627delG and 1570-1G-〉A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 86:9-12
8. Bonny O, Knoers N, Monnens L, Rossier BC 2002 A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism. Pediatr Nephrol 17:804-808
9. Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A 2002 Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel α-, β-, and γ-subunit genes. J Clin Endocrinol Metab 87:3344-3350
10. Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, Lazdunski M, Barbry P 1995 Cloning, chromosomal localization, and physical linkage of the β-and γ-subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 28:560-565
11. Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl J, Gardiner RM, Chung E 1996 Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 5:293-299
12. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP 1998 Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 19:279-281
13. Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K 2000 A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 85:4690-4694
14. Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG 2001 Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab 86:2056-2059
15. Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ 2003 Identification of a novel mutation in the human mineralocorticoid receptor gene in a German family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab 88:1683-1686
16. Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombes M, Zennaro MC 2003 Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 88:2508-2517
17. Fan YS, Eddy RL, Byers MG, Haley LL, Henry WM, Nowak NJ, Shows TB 1989 The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2. Cytogenet Cell Genet 52:83-84
18. Morrison N, Harrap SB, Arriza JL, Boyd E, Connor JM 1990 Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1. Hum Genet 85:130-132
19. Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Housman DE, Evans RM 1987 Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 237:268-275
20. Zennaro MC, Keightley MC, Kotelevtsev Y, Conway GS, Soubrier F, Fuller PJ 1995 Human mineralocorticoid receptor genomic structure and identification of expressed isoforms. J Biol Chem 270:21016-21020
21. Komesaroff PA, Verity K, Fuller PJ 1994 Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor. J Clin Endocrinol Metab 79:27-31
22. Zennaro MC, Borensztein P, Jeunemaitre X, Armanini D, Soubrier F 1994 No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J Clin Endocrinol Metab 79:32-38
23. Arai K, Tsigos C, Suzuki Y, Listwak S, Zachman K, Zangeneh F, Rapaport R, Chanoine JP, Chrousos GP 1995 No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism. J Clin Endocrinol Metab 80:814-817
24. Arai K, Chrousos GP 1995 Syndromes of glucocorticoid and mineralocorticoid resistance. Steroids 60:173-179
25. Karlberg P, Taranger J, Engstrom I, Karlberg J, Landstrom T, Lichtenstein H, Lindstrom B, Svennberg-Renberg I 1976 Physical growth from birth to 16 years and longitudinal outcome of the study during the same age period. Acta Paediatr Scand Suppl 258:7-76
26. Axelson M, Sahlberg B-L, Sjövall J 1981 Analysis of profiles of conjugated steroids in urine by ion-exchange separation and gas chromatography-mass spectrometry. J Chromatogr Biomed Appl 224:355-370
27. Ludwig M, Bolkenius U, Wickert L, Bidlingmaier F 1998 Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel. J Steroid Biochem Mol Biol 64: 227-230
28. Cheek DB, Perry JW 1958 A salt wasting syndrome in infancy. Arch Dis Child 33:252-256
29. Kino T, Chrousos GP 2001 Glucocorticoid and mineralocorticoid resistance/ hypersensitivity syndromes. J Endocrinol 169:437-445
30. Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP 2000 Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289:119-123
31. Arai K, Zachman K, Shibasaki T, Chrousos GP 1999 Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab 84:2434-2437
32. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T 2003 Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet 112:91-97
33. Den Dunnen JT, Antonarakis SE 2000 Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12