三A综合征或奥尔格罗夫综合征。一例伴有眼部异常及AAAS基因新突变的病例报告。
Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.
作者信息
Villanueva-Mendoza Cristina, artínez-Guzmán Oswaldo, Rivera-Parra David, Zenteno Juan Carlos
机构信息
Department of Genetics, Asociación para Evitar la Ceguera en México, México City, Mexico.
出版信息
Ophthalmic Genet. 2009 Mar;30(1):45-9. doi: 10.1080/13816810802502962.
PURPOSE
Triple A syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic hormone resistant adrenal failure and some neurologic abnormalities. We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene.
METHODS
PCR amplification of the complete coding sequence as well as the exon-intron junctions of AAAS gene was performed in DNA from the patient and his parents.
RESULTS
AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient.
CONCLUSIONS
The novel mutation described confirms the diagnosis.
目的
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、促肾上腺皮质激素抵抗性肾上腺功能衰竭以及一些神经学异常。我们报告一名9岁患有无泪、视神经萎缩和贲门失弛缓症且AAAS基因发生突变的患者。
方法
对患者及其父母的DNA进行AAAS基因完整编码序列以及外显子-内含子连接区域的PCR扩增。
结果
AAAS基因分析显示患者DNA中外显子1的核苷酸位置122处存在纯合的A到G突变。
结论
所描述的新突变证实了诊断。
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