Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.

[triple a syndrome]

Allgrove (OMIM #231550 ) or Triple-A syndrome is a rare , autosomal recessive disorder characterized by the triad of familial adrenal insufficiency , achalasia , and alacrima . Approximately one -half of all patients with Triple-A syndrome have been shown to have mutations in the AAAS gene on chromosome 12 q 13 , which results in loss or non-function of the encoded protein .Five unrelated families clinically diagnosed with Allgrove Syndrome were evaluated for sequence variations in the AAAS gene . Blood samples were collected after informed and written consent was obtained . Isolated DNA derived from subjects was amplified using intronic primers . The entire sequence of the AAAS gene including regulatory region , coding regions and exon-intron boundaries were analyzed for any alteration by PCR and direct sequencing .In six probands of five families , four previously reported and two novel mutations were identified . Two heterozygote and homozygote mutations in exon 9 and the regulatory region , respectively , were detected in one of the probands .T his is the first report of Triple-A syndrome from an Iranian population . Collectively , our study findings indicate that mutations scattered across the AAAS gene and upstream regulation elements . Various ethnic groups should develop a mutation database for their own rare genetic disorders . However , mutation databases should initially screen common mutated alleles . Our families present the typical triad of symptoms and the mutation spectrum is similar to the other population studied . Further study is required for phenotype-genotype correlation in the Iranian population .

Diseases
Validation

Diseases presenting "blood samples" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kallmann syndrome

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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