Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

ABSTRACT:

Objective

The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which facilitates immunological self-tolerance. The objective was to investigate >300 probands with suspected APS-1 or isolated hypoparathyroidism for AIRE abnormalities.

Methods

Probands were assessed by DNA sequence analysis. Novel variants were characterised using 3D modelling of the AIRE protein. Restriction enzyme and microsatellite analysis were used to investigate for uniparental isodisomy.

Results

Biallelic AIRE mutations were identified in 35 probands with APS-1 and 5 proband

SUBMITTER: Cranston T 

PROVIDER: S-EPMC9175554 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature