Relevance to Autism

Biallelic variants in the KPTN gene were found to cosegregate with the disease phenotype in nine family members from four nuclear families from the Amish community of Ohio presenting with an inherited variable form of neurodevelopmental delay (most consistent features were global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of pervasive developmental disorder, such as stereotypies and/or repetitive speech) in Baple et al., 2013. A homozygous frameshift variant in the KPTN gene was identified in two adult siblings from Estonia presenting with moderate intellectual disability and macrocephaly in Pajusalu et al., 2015; the male sibling also presented with behavioral problems, including autistic features.

Molecular Function

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability.

External Links

References