Relevance to Autism

Abu-Libdeh et al., 2019 identified a homozygous frameshift variant in the NTNG2 gene in eight individuals from four consanguineous families of Arab Muslim origin, all of whom presented with global developmental delay, hypotonia, absent speech, joint laxity, and autistic features such as poor eye contact and stereotypic hand movements. Dias et al., 2019 identified 16 individuals from seven unrelated families with ultra-rare homozygous missense variants in NTNG2 who presented with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features (with all affected individuals in two families reported to have autism) and other behavioral abnormalities, and variable dysmorphic features; these missense variants were subsequently demonstrated to result in significantly reduced cell surface expression in functional studies.

Molecular Function

Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites.

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Model Summary

Instructive role for axon-derived factors in the segmental differentiation of target dendrites.

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