वैज्ञानिक लेख 🇬🇧 Mentions KS

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye

person Gülsüm Kayhan, Ahmet Ozaslan, Elvan Işeri, Esra Guney, Hasan Huseyin Kazan, Dicle Buyuktaskin, Muhammed Fatih Mulayim, Mehmet Ali Ergun and Ferda Emriye Percin

calendar_today Feb 23, 2026

This Turkish study used whole exome sequencing in 75 children with autism after standard genetic tests were normal. Pathogenic or likely pathogenic variants were found in 24%, most often in MECP2, EP300, and PTEN, with new de novo variants also identified. The findings support WES as a useful tool for diagnosis, care planning, and family counseling in ASD.