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Tytuł pozycji:

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

Tytuł:
Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
Autorzy:
Christophe GAULD
Alice POISSON
Julie REVERSAT
Elodie PEYROUX
Françoise HOUDAYER-ROBERT
Massimiliano ROSSI
Gaetan LESCA
Damien SANLAVILLE
Caroline DEMILY
Temat:
Autism Spectrum disorder
Erotomania
Persistent delusional disorders
Intellectual deficiency
Phenotypic gradient
AUTS2
Psychiatry
RC435-571
Źródło:
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
Wydawca:
BMC, 2021.
Rok publikacji:
2021
Kolekcja:
LCC:Psychiatry
Typ dokumentu:
article
Opis pliku:
electronic resource
Język:
English
ISSN:
1471-244X
Relacje:
https://doaj.org/toc/1471-244X
DOI:
10.1186/s12888-021-03342-8
Dostęp URL:
https://doaj.org/article/e46caa96fbbc4e0ab58e7ad30e9a30ff  Link otwiera się w nowym oknie
Numer akcesji:
edsdoj.46caa96fbbc4e0ab58e7ad30e9a30ff
Czasopismo naukowe
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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