A 9.8 Mb deletion at 7q31.2q31.31 downstream of in an individual with speech and language impairment suggests a possible positional effect.

Haploinsufficiency of causes related speech and language disorder. We report a 9.8 Mb deletion downstream of in a girl with speech and language impairment, developmental delay, and other features.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented with global developmental delay (GDD), dysmorphic features, ophthalmologic abnormalities, and neurological features. To assess the nature of these variants, functional studies were performed in Drosophila.