Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

[triple a syndrome]

To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey .The coding sequence of the AAAS gene was sequenced including exon-intron boundaries . Haplotype analysis using markers from AAAS region was performed in order to assess potential founder effects .In all 3 patients , the identical nonsense mutation (R 478 X ) in exon 16 of the AAAS gene was identified . The patients who may be distantly related appeared phenotypically similar with the classical triad of the triple A syndrome (adrenal insufficiency , alacrima and achalasia ) with dermatological manifestations while lacking neurological features except for mild mental retardation .The R 478 X mutation tends to result in a rather severe phenotype although genotype-phenotype relationships can not be drawn due to the small number of patients .

Diseases
Validation

Diseases presenting "small number" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

cohen syndrome

cushing syndrome

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

focal myositis

gm1 gangliosidosis

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

oculocutaneous albinism

oligodontia

omenn syndrome

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

thoracic outlet syndrome

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

zellweger syndrome

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