Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

ABSTRACT:

Background

Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is therefore associated with neurocognitive disturbances and social cognition, indicating potential functional maladjustment in the affected subjects, and a potentially significant impact on quality of life. Although many isolated cases have been reported in the literature, to date no families have been described. This case reports on a family (three generations) with a frameshift variant in the AUTS2 gene.

Case presentation

The proband is 13 years old with short stature, dysmorphic features, moderate intellectual disability and autis

SUBMITTER: Gauld C 

PROVIDER: S-EPMC8285776 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature