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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Baple, EL; Maroofian, R; Chioza, BA; Izadi, M; Cross, HE; Al-Turki, S; Barwick, K; ... Crosby, AH; + view all (2014) Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures. The American Journal of Human Genetics , 94 (1) pp. 87-94. 10.1016/j.ajhg.2013.10.001. Green open access

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Abstract

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.

Type: Article
Title: Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajhg.2013.10.001
Publisher version: https://doi.org/10.1016/j.ajhg.2013.10.001
Language: English
Additional information: © 2014 The Authors. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10076065
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