Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
OBJECTIVE
To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey.


METHODS
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.


RESULTS
In all 3 patients, the identical nonsense mutation (R478X) 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.


CONCLUSIONS
The R478X mutation tends to result in a rather severe phenotype although genotype-phenotype relationships cannot be drawn due to the small number of patients.
Yuksel
Bilgin
B
Division of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey. byuksel@cu.edu.tr
Braun
Regina
R
Topaloglu
A Kemal
AK
Mungan
Neslihan O
NO
Ozer
Guler
G
Huebner
Angela
A
D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004931:Esophageal Achalasia / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins