Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
- Resource Type
- Article
- Authors
- Liaqat, Khurram; Treat, Kayla; Wilson, Theodore E.; Conboy, Erin; Vetrini, Francesco
- Source
- Clinical Genetics. Apr2024, Vol. 105 Issue 4, p455-456. 2p.
- Subject
- *NEURAL development
*GUANINE nucleotide exchange factors
*NUCLEOTIDE sequencing
*AUTISM spectrum disorders
- Language
- ISSN
- 0009-9163
This article discusses a case study of a 5-year-old male with autism spectrum disorder (ASD) and other neurodevelopmental disorders. The study identified a de novo pathogenic variant in the ITSN1 gene, which is associated with autosomal dominant neurodevelopmental disorders. The article highlights the importance of next-generation sequencing in understanding Mendelian neurodevelopmental conditions. The findings expand the genetic and phenotypic spectrum of autosomal dominant neurodevelopmental disorders and contribute to the limited clinical data available for ITSN1-related disorders. The study was funded by the Indiana University Grand Challenge Precision Health Initiative, and the authors declare no conflicts of interest. [Extracted from the article]