Berrani H, Meskini T, Zerkaoui M, Merhni H, Ettair S, Sefiani A, Mouane N
Pediatrics III, Children's Hospital of Rabat, University Mohammed V, Belarbi El Alaoui Avenue, 6203, Rabat, PB, Morocco.
Nutrition and Food Science Departments, Faculty of Medicine and Pharmacy, Mohammed V University-Rabat, Belarbi El Alaoui Avenue, 6203, Rabat, Morocco.
BMC Pediatr. 2018 Jun 4;18(1):184. doi: 10.1186/s12887-018-1161-4.
Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome.
A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene.
This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.
奥尔格罗夫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、无泪症和肾上腺功能不全三联征。它由位于12号染色体q13区域的AAAS基因突变引起。c.1331+1G>A突变是在包括突尼斯、阿尔及利亚和利比亚在内的北非地区描述的最常见突变之一。我们在此报告一个患有奥尔格罗夫综合征的摩洛哥家庭的临床和基因特征。
一对摩洛哥亲兄妹，父母为近亲结婚，分别在12个月和15个月大时被发现有无泪症和孤立性糖皮质激素缺乏。后来，他们患上了贲门失弛缓症，临床诊断为奥尔格罗夫综合征，并通过DNA测序得到证实，该测序显示AAAS基因存在c.1331+1G>A突变。
这一发现强化了先前的研究，证明了始祖突变c.1331+1G>A在北非患者中的地理分布扩展，从而能够进行有针对性的遗传咨询。据我们所知，这是摩洛哥患者中AAAS基因突变的首次报告。
