Rare Diseases Symptoms Automatic Extraction

Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene.

[triple a syndrome]

Triple A syndrome is a rare autosomal recessive disease characterized by adrenal failure, alacrima, achalasia, and progressive neurologic symptoms.Here, we describe the clinical and genetic characteristics in a Chinese patient with novel mutations in the AAAS gene.The clinical and radiologic characteristics of the patient have been fully described. The coding sequences, including exon-intron boundaries, were amplified from genomic DNA and were sequenced.The clinical and radiologic findings of the patient are fully described. The sequencing of the AAAS gene detected two novel heterozygous mutations, including a c.577C>T, p.Gln193X in exon 7 and a novel frameshift mutation c.1062_1063insAC, p.Ser355fsX416 in exon 11. The testing of parents confirmed their heterozygous carrier status.There are significant clinical variability and mutational heterogeneities in Asian patients with this syndrome. DNA analysis is very helpful in establishing the final diagnosis of triple A syndrome, although its implication in the prediction of clinical expression and the outcome of the disorder is limited.