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Open Access 01-12-2021 | Delusional Disorder | Case report

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

Authors: Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY

Published in: BMC Psychiatry | Issue 1/2021

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 autism spectrum disorder. His mother is 49 years old and also has short stature and similar dysmorphic features. She does not have autism disorder but presents an erotomaniac delusion. Her cognitive performance is heterogeneous. The two aunts are also of short stature. The 50-year-old aunt has isolated social cognition disorders. The 45-year-old aunt has severe cognitive impairment and autism spectrum disorder. The molecular analysis of the three sisters and the proband shows the same AUTS2 heterozygous duplication leading to a frame shift expected to produce a premature stop codon, p.(Met593Tyrfs*85). Previously reported isolated cases revealed phenotypic and cognitive impairment variability. In this case report, these variabilities are present within the same family, presenting the same variant.

Conclusions

The possibility of a phenotypic spectrum within the same family highlights the need for joint psychiatry and genetics research.

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Title: Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
Authors: Christophe GAULD
Alice POISSON
Julie REVERSAT
Elodie PEYROUX
Françoise HOUDAYER-ROBERT
Massimiliano ROSSI
Gaetan LESCA
Damien SANLAVILLE
Caroline DEMILY
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Delusional Disorder
Disorders of Intellectual Development
Intellectual Disability
Autism Spectrum Disorder
Published in: BMC Psychiatry / Issue 1/2021
Electronic ISSN: 1471-244X
DOI: https://doi.org/10.1186/s12888-021-03342-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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