Autism

Gene: NLGN3

Green List (high evidence)

Monogenic association with autism spectrum disorder/asperger syndrome +/- ID in at least 3 unrelated families with supportive mouse model and patient-specific functional studies.

PMID: 28584888 Varghese et al 2017 - provide a summary of mouse model findings.

PMID: 31184401 Quartier et al 2019 - provide information regarding 2 previously published families (PMID 12669065; 25167861) and one additional family. Supportive functional studies for all three variants showing effect on NLGN3 localization and expression. Additional family described - two brothers affected by nonsyndromic ID, autistic traits and language impairment, WES analysis identified a maternally inherited missense variant NGLN3 c.1540C>T, Pro514Ser.

PMID: 12669065 Jamain et al 2013 - Missense variant Arg451Cys was identified in two Swedish brothers with ASD, one with typical autism and ID and one with Asperger syndrome

PMID: 25167861 Redin et al 2014 - homozygous missense variant c.1789C>T, Arg597Trp in one boy with ID and ASD and in his maternal cousin with the similar phenotype (Redin et al., 2014).

ClinGen curation 2018 - moderate gene-disease validity

Created: 23 Mar 2022, 3:07 a.m. | Last Modified: 23 Mar 2022, 3:07 a.m.

Panel Version: 0.175

Phenotypes
{Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425

Publications

• 28584888
• 12669065
• 25167861