Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.

ABSTRACT:

Background

Achalasia-addisonianism-alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding aladin (AAAS). Aladin is a member of the WD-repeat family of proteins and is a component of the nuclear pore complex. It is thought to be involved in nuclear import and export of molecules. Here, we describe an individual with a paternally inherited truncating variant and a maternally inherited, novel missense variant in AAAS presenting with alacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, and autonomic dysfunction.

Methods

Whole-exome sequencing was performed in the proband, sister, and parents. Variants were

SUBMITTER: Macke EL 

PROVIDER: S-EPMC9266593 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature