Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

BMC Pediatrics

H. Merhni¹  M. Zerkaoui¹  A. Sefiani¹  H. Berrani²  T. Meskini²  N. Mouane²  S. Ettair² 

[1] Medical Genetics Institute, Institut National d’Hygiène, University Mohammed V;Pediatrics III, Children’s Hospital of Rabat, University Mohammed V;

关键词: Allgrove syndrome;    C.1331 + 1G > A mutation;    AAAS gene;   

DOI  :  10.1186/s12887-018-1161-4

来源: DOAJ

【 摘 要 】

Abstract Background 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. Case presentation 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. Conclusion 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.

【 授权许可】

Unknown