CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures

Am J Med Genet A. 2021 Aug;185(8):2602-2606. doi: 10.1002/ajmg.a.62343. Epub 2021 May 21.

Authors

Beryl Royer-Bertrand¹, Katarina Cisarova¹, Florence Niel Bütschi¹, Giovanni Foletti², Vincent Guinchat³, Christel Tran¹, Andrea Superti-Furga¹, Jean-Marc Good¹

Affiliations

¹ Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
² Neurology-Epileptology, Institution of Lavigny, Lavigny, Switzerland.
³ Department of Psychiatry, Psychiatric Section of Mental Development, Lausanne University Hospital (CHUV), Prilly-Lausanne, Switzerland.

PMID: 34018673
DOI: 10.1002/ajmg.a.62343

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't
Review

MeSH terms

Adult
Autistic Disorder / diagnosis*
Autistic Disorder / genetics*
Facies
Genetic Association Studies
Genetic Predisposition to Disease
Haploinsufficiency*
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Loss of Function Mutation
Male
Phenotype
Repressor Proteins / genetics*
Seizures / diagnosis*
Seizures / genetics*

Substances

CNOT2 protein, human
Repressor Proteins