Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder
Makaleler > Tam Makale · 2025
Yazarlar: Turkan Turkut Tan, Yusuf Can Dogan, Enise AVCI DURMUŞALİOĞLU, Zehra Burcu Yilmaz, Muhammet Emin Tan, Tahir ATİK, Muhsin Özgür ÇOĞULU, Esra IŞIK
International Journal of Developmental Disabilities, Uluslararası, Wos, 2025, ss 1-4
DOI: 10.1080/20473869.2025.2552735
Özet
Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental condition characterized by social communication deficits and restricted, repetitive behaviors. Although next-generation sequencing has revealed numerous ASD-associated genes, the molecular etiology remains unresolved in many cases. Recent studies have proposed ITSN1 as a candidate gene in autosomal dominant neurodevelopmental disorders, particularly ASD. We describe a patient with nonverbal ASD, significant language regression, stereotypic behaviors, and no dysmorphic features. Trio whole exome sequencing identified a novel de novo heterozygous missense variant in ITSN1: c.5036A>G; p.(Glu1679Gly), located in the C2 domain. The variant was absent from public databases and classified as likely pathogenic (PVS1, PS2, PM2, PP4). Our findings align with previous reports implicating ITSN1 in ASD, intellectual disability, and behavioral phenotypes. This case adds further evidence to the growing recognition of ITSN1 as a contributory gene in ASD and highlights its phenotypic variability. ITSN1 should be considered in the genetic evaluation of ASD.