NDLI: Recurrent KIF2A mutations are responsible for classic lissencephaly

Content Provider	Springer Nature Link
Author	Cavallin, Mara Bijlsma, Emilia K. El Morjani, Adrienne Moutton, Sébastien Peeters, Els A. J. Maillard, Camille Pedespan, Jean Michel Guerrot, Anne Marie Drouin Garaud, Valérie Coubes, Christine Genevieve, David Bole Feysot, Christine Fourrage, Cecile Steffann, Julie Bahi Buisson, Nadia
Copyright Year	2016
Abstract	Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. In parallel, we re-evaluated the two previously reported cases showing de novo mutations of the same residues. The identification of mutations only in the residues Ser317 and His321 suggests these are hotspots for de novo mutations. Both mutations lead to a classic form of lissencephaly, with a posterior to anterior gradient, almost indistinguishable from LIS1-related lissencephaly. However, three fourths of patients also showed variable congenital and postnatal microcephaly, up to −5 SD. Located in the motor domain of the KIF2A protein, the Ser317 and His321 alterations are expected to disrupt binding or hydrolysis of ATP and consequently the MT depolymerizing activity. This report also establishes that KIF2A mutations represent significant causes of classic lissencephaly with microcephaly.
Starting Page	73
Ending Page	79
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	18
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-10-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Lissencephaly Kinesin KIF2A Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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