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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.


ABSTRACT: Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed compound heterozygous variants in AIRE in the proband, with a paternally inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel, likely pathogenic, maternally inherited missense variant (c.268T>C; p.Tyr90His).

SUBMITTER: Sanford E 

PROVIDER: S-EPMC5983174 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1.

Sanford Erica E   Watkins Kelly K   Nahas Shareef S   Gottschalk Michael M   Coufal Nicole G NG   Farnaes Lauge L   Dimmock David D   Kingsmore Stephen F SF  

Cold Spring Harbor molecular case studies 20180601 3


Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (<i>AIRE)</i> gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hy  ...[more]

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