Mutations of the AAAS gene in an Indian family with Allgrove's syndrome

World Journal of Gastroenterology

Volumn 12, Issue 29, 2006, Pages 4764-4766

  Mukhopadhya, Ashis ^a   Danda, Sumita ^a   Huebner, Angela ^b   Chacko, Ashok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Allgrove's syndrome; Autosomal recessive; Genetic mutation; India; Triple A syndrome

Indexed keywords

CORTICOSTEROID; MINERALOCORTICOID;

ADOLESCENT; ADRENAL CORTEX INSUFFICIENCY; ALLGROVE SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 12Q; EARLY INTERVENTION; ESOPHAGUS ACHALASIA; FEMALE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIAN; IRON DEFICIENCY ANEMIA; KERATOSIS PALMOPLANTARIS; MOTHER; NEUROLOGIC DISEASE; PIGEON THORAX; SIBLING;

EID: 33747675482     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v12.i29.4764     Document Type: Article

References (13)

1. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978; 1: 1284-1286
2. Garcia-Compean D, Ramon Martinez H, Villegas-Gonzalez MJ, Montes J, Garcia Quintanilla F, Gonzalez JA. Achalasia, alacrima without adrenal insufficiency with peripheral and autonomic neurological dysfunction (Allgrove's syndrome). Rev Gastroenterol Mex 1998; 63: 33-36
3. Khelif K, De Laet MH, Chaouachi B, Segers V, Vanderwinden JM. Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. Am J Surg Pathol 2003; 27: 667-672
4. Jacob A, Parameswaran K, Kishore A. Two siblings with Allgrove's syndrome and extrapyramidal features. Neurol India 2003; 51: 257-259
5. Grant DB, Dunger DB, Smith I, Hyland K. Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. Eur J Pediatr 1992; 151: 85-89
6. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JH, Werder E. Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/ achalasia (3A) syndrome. Arch Dis Child 1993; 68: 779-782
7. Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K. Triple A syndrome - clinical aspects and molecular genetics. Endocr Res 2000; 26: 751-759
8. Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 2004; 30: 891-899
9. Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Begeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000; 26:332-335
10. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001; 10: 283-290
11. Prpic I, Huebner A, Persic M, Handschug K, Pavletic M. Triple A syndrome: genotype-phenotype assessment. Clin Genet 2003; 63:415-417
12. Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 2003; 74: 654-657
13. Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002; 125: 2681-2690