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Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.


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.

Pubmed ID: 24239382


  • Baple EL
  • Maroofian R
  • Chioza BA
  • Izadi M
  • Cross HE
  • Al-Turki S
  • Barwick K
  • Skrzypiec A
  • Pawlak R
  • Wagner K
  • Coblentz R
  • Zainy T
  • Patton MA
  • Mansour S
  • Rich P
  • Qualmann B
  • Hurles ME
  • Kessels MM
  • Crosby AH


American journal of human genetics

Publication Data

January 2, 2014

Associated Grants

  • Agency: Medical Research Council, Id: G1001931
  • Agency: Medical Research Council, Id: G1001931
  • Agency: Medical Research Council, Id: G1002279
  • Agency: Medical Research Council, Id: G1002279
  • Agency: Wellcome Trust, Id: WT098051

Mesh Terms

  • Actin Cytoskeleton
  • Amino Acid Sequence
  • Developmental Disabilities
  • Female
  • Fluorescent Antibody Technique
  • Genetic Linkage
  • Humans
  • Male
  • Megalencephaly
  • Microfilament Proteins
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Seizures