SHANK3 Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features

J Neuropsychiatry Clin Neurosci. 2019 Summer;31(3):272-275. doi: 10.1176/appi.neuropsych.18100228. Epub 2019 Mar 19.

Authors

Andrea Accogli¹, Richard Yang¹, Marie-Eve Blain-Juste¹, Nancy Braverman¹, Jai Shah¹, Yannis Trakadis¹

Affiliation

¹ The Department of Medical Genetics, McGill University Health Centre, Montreal (Accogli, Yang, Trakadis); the Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal (Accogli); the DINOGMI-Università di Genova, Italy (Accogli); the Douglas Mental Health University Institute, Montreal (Blain-Juste, Shah); and the Department of Human Genetics, McGill University, Montreal (Braverman, Trakadis).

PMID: 30888922
DOI: 10.1176/appi.neuropsych.18100228

No abstract available

Keywords: Childhood Neuropsychiatric Disorders; Intellectual Disability; SHANK3; Turner Syndrome.

Publication types

Case Reports

MeSH terms

Adolescent
Delirium / complications*
Delirium / genetics*
Female
Genetic Predisposition to Disease / genetics
Humans
Intellectual Disability / complications*
Intellectual Disability / genetics*
Mutation*
Nerve Tissue Proteins / genetics*
Turner Syndrome / complications*
Turner Syndrome / genetics*

Substances

Nerve Tissue Proteins
SHANK3 protein, human