Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

BMC psychiatry - 17 Jul 2021

Gauld Christophe, Poisson Alice, Reversat Julie, Peyroux Elodie, Houdayer-Robert Françoise, Rossi Massimiliano, Lesca Gaetan, Sanlaville Damien, Demily Caroline

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Intellectual Disability

Share to Phenotype

Share to Quality of Life

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 34273950
DOI: 10.1186/s12888-021-03342-8
PMCID: PMC8285776

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.PMID 34273950Read ↗

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.Semantic proximity Read ↗

AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.Semantic proximity Read ↗

De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.Semantic proximity Read ↗

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.Semantic proximity Read ↗

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.Semantic proximity Read ↗

Genetics of autistic disorders: review and clinical implications.Semantic proximity Read ↗

The genetics of autistic disorders and its clinical relevance: a review of the literature.Semantic proximity Read ↗

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.Semantic proximity Read ↗

Isolated loss of the AUTS2 long isoform, brain-wide or targeted to <i>Calbindin</i> -lineage cells, generates a specific suite of brain, behavioral and molecular pathologiesSemantic proximity Read ↗

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Semantic proximity Read ↗

[The genetics of autistic disorders].Semantic proximity Read ↗

AUTS2 expression within mammalian lineage: a predictor of neural networks involved in Autism Spectrum DisordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.