Author/Editor     Lovrečić, L; Pelet, A; Peterlin, B
Title     Heterogeneity of the triple A syndrome and assessment of a case
Type     članek
Source     Genet Couns
Vol. and No.     Letnik 17, št. 2
Publication year     2006
Volume     str. 41-5
ISSN     1015-8146
Language     eng
Abstract     Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and--occasionally--autonomic instability. Disease causing mutations have been found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation could be found. We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction presented with excessive sweating. DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations. A similar genotype was previously reported, but with a remarkably different phenotype.
Descriptors     ESOPHAGEAL ACHALASIA
TEARS
SALIVATION
ADRENAL GLAND HYPOFUNCTION
HETEROZYGOTE
ADULT
GENOTYPE