Analysis of the AAAS gene in a Japanese patient with triple A syndrome.

[triple a syndrome]

Triple A syndrome , also known as Allgrove syndrome , is a rare autosomal recessive disorder characterized by adrenal insufficiency , achalasia and alacrima . It has recently been reported that this syndrome is caused by mutations in the AAAS gene . In the present study , we analyzed the AAAS gene in a Japanese patient with triple A syndrome . The patient was a Japanese girl previously reported by Hirose et al . (J Jpn Pediatr Soc 102 : 912 -915 , 1998 ). The parents of the patient were first cousins . The patient was confirmed to have alacrima and isolated glucocorticoid deficiency at the age of 2 years . She later developed achalasia of the cardia , and was diagnosed as having triple A syndrome . The AAAS gene was amplified by the PCR method , and the PCR products were directly sequenced . The patient was homozygous for a novel nonsense mutation Q 237 X , changing codon 237 encoding Gln (CAA ) to a stop codon (TAA ). The parents were heterozygous for the Q 237 X mutation . The AAAS gene encodes a protein of 546 amino acids , ALADIN . The Q 237 X mutation is predicted to result in a truncated and presumably non-functioning ALADIN protein , thus causing the clinically manifest syndrome in the patient . To our knowledge , this is the first report on AAAS gene mutations in Japan .

Diseases
Validation

Diseases presenting "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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