Lovrecić L, Pelet A, Peterlin B
Division of Medical Genetics, Department of Obstetrics and Gynecology, UMC, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.
Genet Couns. 2006;17(2):191-5.
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.
奥尔格罗夫综合征（三 A 综合征）是一种罕见的常染色体隐性疾病，其特征为贲门失弛缓症、无泪症、肾上腺功能不全，偶尔还伴有自主神经功能不稳定。已在 12q13 上的 AAAS 基因中发现致病突变，但未发现明显的表型-基因型相关性。我们报告一名 28 岁女性，具有典型的三 A 综合征全身特征，伴有明显的神经功能障碍/缺陷，包括远端肌肉萎缩、双下肢进行性肌肉无力和萎缩、感觉功能障碍、反射亢进以及表现为多汗的自主神经功能障碍。AAAS 基因的 DNA 测序显示为先前报道的突变的复合杂合子。先前曾报道过类似的基因型，但表型明显不同。
