Dusek Tina, Korsic Marta, Koehler Katrin, Perkovic Zdravko, Huebner Angela, Korsic Mirko
Department of Internal Medicine, Division of Endocrinology, Clinical Hospital Center Zagreb and Zagreb University School of Medicine, Zagreb, Croatia.
Horm Res. 2006;65(4):171-6. doi: 10.1159/000092003. Epub 2006 Mar 15.
The clinical and molecular data of a patient with triple A syndrome are reported.
A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty started at the age of 17 years. At the same time, symptoms of central, peripheral, and autonomic nervous system dysfunction were noted. Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed.
A compound heterozygous AAAS mutation consisting of two mutations was found: a C > T transition in exon 7 resulting in a change of arginine at amino acid position 194 into a stop codon (Arg194X) at one allele, and a C > T transition in exon 12 resulting in a change of glutamine at amino acid position 387 into a stop codon (Gln387X) on the other allele.
The mutation in exon 7 (p.R194X) of the AAAS gene is a novel mutation which has not been found in any other family so far, whereas the second was already found in some other families. This case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.
报告一例三A综合征患者的临床及分子数据。
一名21岁男性，2岁时因严重肾上腺危象发作后被诊断为肾上腺功能不全。4岁时，被诊断为贲门失弛缓症和无泪症。17岁开始进入青春期。同时，出现中枢、外周及自主神经系统功能障碍症状。后来，20岁时，诊断出骨龄延迟6年及严重骨质疏松症。
发现由两个突变组成的复合杂合AAAS突变：一个等位基因外显子7中的C>T转换导致氨基酸位置194处的精氨酸变为终止密码子（Arg194X），另一个等位基因外显子12中的C>T转换导致氨基酸位置387处的谷氨酰胺变为终止密码子（Gln387X）。
AAAS基因外显子7中的突变（p.R194X）是一种新的突变，迄今为止在其他任何家族中均未发现，而第二种突变已在其他一些家族中发现。该病例增加了三A综合征的临床和分子谱，可能为深入了解AAAS基因的功能提供新的视角。
