Mutant WD-repeat protein in triple-A syndrome
Mutant WD-repeat protein in triple-A syndrome
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DOI：
10.1038/81642
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发表时间：
2000-11-01
期刊：
影响因子：
30.8
通讯作者：
Lyonnet, S
中科院分区：
文献类型：
--
作者：
Tullio-Pelet, A;Salomon, R;Lyonnet, S
三A综合征（MIM 231550;也称为Allgrove综合征）是一种常染色体隐性遗传疾病，其特征在于促肾上腺皮质激素（ACTH）抵抗性肾上腺功能不全、食管贲门失弛缓症和无泪症（1-3）。然而，几条证据表明三A综合征是由自主神经系统的异常发育引起的（4-6），迟发性进行性神经症状（包括小脑共济失调、周围神经病变和轻度痴呆）表明中枢神经系统也可能参与疾病（7，8）。利用基于连锁不平衡的精细作图技术，我们在北非近交系中鉴定了染色体12 q23上的一个短的祖先单倍型（
Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima(1-3) Whereas several lines of evidence indicate that triple-A syndrome results from the abnormal development of the autonomic nervous system(4-6), late-onset progressive neurological symptoms (including cerebellar ataxia, peripheral neuropathy and mild dementia) suggest that the central nervous system may be involved in the disease as well(7,8). Using fine-mapping based on linkage disequilibrium in North African inbred families, we identified a short ancestral haplotype on chromosome 12q23 (