Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Autoimmune polyendocrinopathy syndrome type 1 (APS1) is characterized by the presence of at least two out of three clinical features, which include Addison's disease, hypoparathyroidism, and chronic mucocutaneous candidiasis. This disorder is caused by mutations in the AIRE (autoimmune regulator) gene. While several AIRE mutations have been described in APS1 patients of various ethnic origins, the genetic cause of APS1 in Arab patients requires further investigation. This study describes seven Arab families, in which 18 patients had APS1. In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1. DNA sequencing of the AIRE gene of patients from this study identified four novel and one recurrent mutation. These mutations likely result in loss of AIRE function in the patients. In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals. Furthermore, this investigation demonstrates inflammation of the hair follicles in APS1 patients with alopecia universalis. We conclude that Arab APS1 patients carry novel and recurrent mutations in the AIRE gene.

Adult extrarenal Wilms' tumour: A case report and review of literature.

Whilst only fifteen cases of extrarenal Wilms' tumour (EWT) have been documented in adults, only two previous cases were located in the retroperitoneal space. We report a case of a 21-year-old Saudi female who presented with severe abdominal pain associated with a large solid tumour filling most of the left side of the abdomen and extending across the midline to the right side. Following surgical removal of this retroperitoneal mass, histopathological examination showed the classical features of Wilms' tumour. Both kidneys did not show any primary lesion. The local tumour recurrence responded to Wilms' tumour chemotherapy regimen. The literature on EWT is also reviewed, and the possible mechanism of histogenesis is discussed.