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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

by Kim, Hee Young , Maitz, Silvia , El Chehadeh, Salima , de Brouwer, Arjan P. M. , Bakhtiari, Somayeh , Wynn, Julia , Küry, Sébastien , Nizon, Mathilde , Wessels, Marja , Jang, Gyubin , Chung, Wendy K. , Muller, Jean , Isidor, Bertrand , Ko, Jaewon , Piton, Amélie , Kim, Ho Min , Kim, Jinhu , Torti, Erin , Harper, Kelly , Jaén, Alberto Fernández , Selicorni, Angelo , Page, Matthew , Willems, Marjolaine , Cogné, Benjamin , Gecz, Jozef , Armstrong, Martin , Grange, Dorothy K. , Kim, Dongwook , Kim, Hyeonho , Cutcutache, Ioana , Silfhout, Anneke Vulto-van , Symonds, Joseph , Kruer, Michael C. , Bayat, Allan , Han, Kyung Ah , Han, Ah-reum , Lim, Dongseok , Vitiello, Giuseppina , Feger, Claire , Um, Ji Won

in 13/1 / 13/109 / 14/19 / 38 / 42/70 / 45 / 631/378/3920 / 631/378/548/1964 / 64 / 64/60 / 692/617/375/366/1373 / 82/80 / 9/74 / Abnormalities / Axonogenesis / Cognition / Cognitive Sciences / Disease / Disorders / Gait / Genes / Genetic counseling / Genetics / Hippocampus / Human genetics / Humanities and Social Sciences / Intellectual disabilities / Kinases / Life Sciences / Long term memory / Maintenance / Males / Memory / multidisciplinary / Neurobiology / Neurodevelopmental disorders / Neurons / Neurons and Cognition / Patients / Perturbation / Protein-tyrosine kinase receptors / Proteins / Science / Science (multidisciplinary) / Spatial memory / Synapses / TrkB receptors / Tyrosine

2022

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2022

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2022

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Journal Article

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Kim, Hee Young,

Maitz, Silvia,

El Chehadeh, Salima,

de Brouwer, Arjan P. M.,

Bakhtiari, Somayeh,

Wynn, Julia,

Küry, Sébastien,

Nizon, Mathilde,

Wessels, Marja,

Jang, Gyubin,

Chung, Wendy K.,

Muller, Jean,

Isidor, Bertrand,

Ko, Jaewon,

Piton, Amélie,

Kim, Ho Min,

Kim, Jinhu,

Torti, Erin,

Harper, Kelly,

Jaén, Alberto Fernández,

Selicorni, Angelo,

Page, Matthew,

Willems, Marjolaine,

Cogné, Benjamin,

Gecz, Jozef,

Armstrong, Martin,

Grange, Dorothy K.,

Kim, Dongwook,

Kim, Hyeonho,

Cutcutache, Ioana,

Silfhout, Anneke Vulto-van,

Symonds, Joseph,

Kruer, Michael C.,

Bayat, Allan,

Han, Kyung Ah,

Han, Ah-reum,

Lim, Dongseok,

Vitiello, Giuseppina,

Feger, Claire,

Um, Ji Won

2022

Overview

SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the X chromosome identified by exome sequencing in individuals with neurodevelopmental disorders. Functional studies showed that some variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Strikingly, these variations abolished the ability of SLITRK2 wild-type to reduce the levels of the receptor tyrosine kinase TrkB in neurons. Moreover, Slitrk2 conditional knockout mice exhibited impaired long-term memory and abnormal gait, recapitulating a subset of clinical features of patients with SLITRK2 variants. Furthermore, impaired excitatory synapse maintenance induced by hippocampal CA1-specific cKO of Slitrk2 caused abnormalities in spatial reference memory. Collectively, these data suggest that SLITRK2 is involved in X-linked neurodevelopmental disorders that are caused by perturbation of diverse facets of SLITRK2 function. The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.

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Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio

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