Recurrent KIF2A mutations are responsible for classic lissencephaly

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 mic...

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Published in:	Neurogenetics Vol. 18; no. 2; pp. 73 - 79
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01-04-2017 Springer Nature B.V Springer Verlag
Subjects:	Adolescent Biomedical and Life Sciences Biomedicine Classical Lissencephalies and Subcortical Band Heterotopias - genetics DNA Mutational Analysis Female Gene Frequency Genetics Human Genetics Human health and pathology Humans Infant Kinesin - genetics Life Sciences Lissencephaly - genetics Male Molecular Medicine Mutation, Missense Neurons and Cognition Neurosciences Original Article Polymorphism, Single Nucleotide KIF2A Lissencephaly Kinesin
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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.
AbstractList	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. 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.
Author	Moutton, Sébastien Steffann, Julie Coubes, Christine Drouin-Garaud, Valérie Fourrage, Cecile Peeters, Els A. J. Maillard, Camille Bijlsma, Emilia K. El Morjani, Adrienne Bole-Feysot, Christine Bahi-Buisson, Nadia Guerrot, Anne-Marie Genevieve, David Cavallin, Mara Pedespan, Jean Michel
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Keywords	KIF2A Lissencephaly Kinesin
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Snippet	Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal...
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SubjectTerms	Adolescent Biomedical and Life Sciences Biomedicine Classical Lissencephalies and Subcortical Band Heterotopias - genetics DNA Mutational Analysis Female Gene Frequency Genetics Human Genetics Human health and pathology Humans Infant Kinesin - genetics Life Sciences Lissencephaly - genetics Male Molecular Medicine Mutation, Missense Neurons and Cognition Neurosciences Original Article Polymorphism, Single Nucleotide
Title	Recurrent KIF2A mutations are responsible for classic lissencephaly
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