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

BMC Psychiatry

Julie REVERSAT¹  Massimiliano ROSSI²  Françoise HOUDAYER-ROBERT²  Gaetan LESCA²  Damien SANLAVILLE³  Christophe GAULD⁴  Alice POISSON⁵  Elodie PEYROUX⁵  Caroline DEMILY⁶ 

[1] Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon, Lyon, France;Department of Medical Genetics, Lyon University Hospital, Lyon, France;Department of Medical Genetics, Lyon University Hospital, Lyon, France;GENDEV Team, CRNL, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France;Department of Psychiatry, Grenoble Alpes University, Avenue du Maquis du Grésivaudan, 38 000, Grenoble, France;CNRS, UMR 8590 IHPST, Sorbonne University (Paris 1), Paris, France;GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Lyon, France;GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Lyon, France;Pôle hospitalo-universitaire ADIS et CRMR GénoPsy, Centre d’Excellence iMIND, CH le Vinatier et Institut Marc Jeannerod, Bron, France;

关键词: Autism Spectrum disorder;    Erotomania;    Persistent delusional disorders;    Intellectual deficiency;    Phenotypic gradient;    AUTS2;   

DOI  :  10.1186/s12888-021-03342-8

来源: Springer

【 摘 要 】

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

【 授权许可】

CC BY