Clinical entity associated to the gene SHANK3

[OrphanetSwitzerland]

Hello,

The gene SHANK3 is linked in Orphanet to ORPHA:106 - NON RARE IN EUROPE: Autism.

The genetic medicine service at the Geneva University Hospital notified us about a patient with a mutation in this gene, with a phenotype characterized by developmental delay, intellectual disability, autism spectrum disorder (ASD) and early psychosis.

Here are some references to support the creation of a new entity in the database:

PMID : 20385823 ; 30537371

Thank you

[MCecile-US14]

Dear @Mickael-Orphanet, Can you look into this when you get the chance and evaluate this potential new syndrome described with SHANK3 mutation ? Thank you, Marie-Cécile

[Mickael-Orphanet]

Dear @OrphanetSwitzerland,

Based on the medical and scientific litterature, Orphanet committee has validated the creation of the subtype "Phelan-McDermid syndrome due to SHANK3 mutation" under ORPHA:662172. The clinical features (intellectual disability, delayed speech, minor dysmorphic features, seizures, hypotonia.) have been considered homogenous and decribed in at least 2 Individuals for the time being. The subtype will be visible on the website next week.

Best regards, Mickaël