Research Highlights: KPTN Gene Linked to Brain-Related Disorder

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KPTN Gene Linked to Brain-Related Disorder

  • The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses.
  • Although the cortical actin cytoskeleton is known to play a key role in neuromorphogenesis, relatively little is known about the specific molecules important for this process.
  • Using linkage analysis and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.
  • Our immunofluorescence analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal structures and that this association is lost upon introduction of the identified mutations.
  • Taken together, our studies have identified kaptin alterations responsible for macrocephaly and neurodevelopmental delay and define kaptin as a molecule crucial for normal human neuromorphogenesis.


Baple, E. L., Maroofian, R., Chioza, B. A., Izadi, M., Cross, H. E., Al-Turki, S., Barwick, K., Skrzypiec, A., Pawlak, R., Wagner, K., Coblentz, R., Zainy, T., Patton, M. A., Mansour, S., Rich, P., Qualmann, B., Hurles, M. E., Kessels, M. M., & Crosby, A. H. (2014). Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. American journal of human genetics94(1), 87–94.

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