Maria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, Judith Haasters, Kerstin Becker, Birgit Budde, Christian Becker, Holger Thiele, Shahid M Baig, María Isidoro-García, Dominic Winter, Hans-Martin Pogoda, Sajjad Muhammad, Matthias Hammerschmidt, Florian Kraft, Ingo Kurth, Hilario Gomez Martin, Matias Wagner, Peter Nürnberg, Muhammad Sajid Hussain
PURPOSE: Neurodevelopmental disorders exhibit clinical and genetic heterogeneity, ergo manifest dysfunction in components of diverse cellular pathways; the precise pathomechanism for the majority remains elusive. METHODS: We studied five affected individuals from three unrelated families manifesting global developmental delay, postnatal microcephaly, and hypotonia. We employed exome sequencing and prioritized variants that were subsequently characterized using immunofluorescence, immunoblotting, pulldown assays, and RNA sequencing...
April 16, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics