Heterogeneity of the triple A syndrome and assessment of a case

Genetic Counseling

Volumn 17, Issue 2, 2006, Pages 191-195

  Lovrecic L ^a   Pelet, A ^b   Peterlin, Borut ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Achalasia; Alacrima; Allgrove syndrome; Gene mutation; Triple A syndrome

Indexed keywords

AAAS GENE; ADULT; ALLGROVE SYNDROME; ANAMNESIS; ARTICLE; AUTONOMIC DYSFUNCTION; BRAIN TOMOGRAPHY; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; ESOPHAGUS ACHALASIA; EVOKED MUSCLE RESPONSE; FEMALE; GASTROSCOPY; GENE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; HYPERHIDROSIS; HYPERREFLEXIA; LABORATORY DIAGNOSIS; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION DISORDER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIODIAGNOSIS; SENSORY DYSFUNCTION;

ADULT; ATROPHY; AUTONOMIC NERVOUS SYSTEM DISEASES; DILATATION; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; FEMALE; GASTRITIS; GENETIC HETEROGENEITY; HUMANS; LACRIMAL APPARATUS DISEASES; MUSCLE, SKELETAL; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; POINT MUTATION; SYNDROME;

EID: 33748264688     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. ALLGROVE J., CLAYDEN G.S., GRANT D.B., MACAULAY J.C.: Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet, 1978, 1, 1284-1286.
2. GAZARIAN M., COWELL C.T., BONNEY M., GRIGOR W.G.: The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrimia, autonomic and other neurological abnormalities. Eur. J. Pediatr., 1994, l54, 18-23.
3. HANDSCHUG K., SPERLING S., YOON S.K., HENNIG S., CLARK A.J.L., HUEBNER A.: Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum. Mol. Genet., 2001, 10, 283-290.
4. HOULDEN H., SMITH S., DE CARVALHO M., BLAKE J., MATHIAS C., WOOD N.W., REILLY M.M.: Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain, 2002, 125, 2681-2690.
5. HUEBNER A., KAINDL A.M., BRAUN R., HANDSCHUG K.: New insights into the molecular basis of the triple A syndrome. Endocr. Res., 2002, 28, 735-741.
6. HUEBNER A., KAINDL A.M., KNOBELOCH K.P., 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.
7. PRPIC I., HUEBNER A., PERSIC M., HANDSCHUG K., PAVLETIC M.: Triple A syndrome: genotype-phenotype assessment. Clin. Genet., 2003, 63, 415-417.
8. SANDRINI F., FARMAKIDIS C., KIRSCHNER L.S., WU S., TULLIO-PELET A., LYONNET S., METZGER D.L., BOURDONY C.J., TIOSANO D., CHAN W.Y., STRATAKIS C.A.: Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. J. Clin. Endocrinol. Metab., 2001, 86, 5433-5437.
9. YUKSEL B., BRAUN R., TOPALOGLU A.K., MUNGAN N.O., OZER G., HUEBNER A.: Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm. Res., 2004, 61, 3-6.