Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi MatsumotoTadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure

Research output: Contribution to journal › Article

Abstract

c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor protein of the kinesin-1 complex and essential for axonal transport in neurons. However, an association between MAPK8IP3 variants and human disease has not been established. We identified 5 individuals from four families with recurrent de novo variants c.1732C>T (p.Arg578Cys) and c.3436C>T (p.Arg1146Cys) in MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, and corpus callosum hypoplasia. Zebrafish embryos overexpressing human mutant JIP3 showed axon varicosities of the posterior lateral line nerve, suggesting an adverse effect on the developing axons. Our results suggest that MAPK8IP3 variants cause a neurodevelopmental disease. ANN NEUROL 2019;85:927–933.

Original languageEnglish
Pages (from-to)927-933
Number of pages7
JournalAnnals of Neurology
Volume85
Issue number6
DOIs
Publication statusPublished - Jun 2019

Fingerprint

Adaptor Protein Complex 1
Axons
Phenotype
Kinesin
Axonal Transport
JNK Mitogen-Activated Protein Kinases
Corpus Callosum
Zebrafish
Cerebral Palsy
Intellectual Disability
Atrophy
Embryonic Structures
Neurons
Proteins

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Iwasawa, S., Yanagi, K., Kikuchi, A., Kobayashi, Y., Haginoya, K., Matsumoto, H., ... Kure, S. (2019). Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of Neurology, 85(6), 927-933. https://doi.org/10.1002/ana.25481

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. / Iwasawa, Shinya; Yanagi, Kumiko; Kikuchi, Atsuo; Kobayashi, Yasuko; Haginoya, Kazuhiro; Matsumoto, Hiroshi; Kurosawa, Kenji; Ochiai, Masayuki; Sakai, Yasunari; Fujita, Atsushi; Miyake, Noriko; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nonoyama, Shigeaki; Ohga, Shouichi; Kawame, Hiroshi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kaname, Tadashi; Matsubara, Yoichi; Shoji, Wataru; Kure, Shigeo.

In: Annals of Neurology, Vol. 85, No. 6, 06.2019, p. 927-933.

Research output: Contribution to journal › Article

Iwasawa, S, Yanagi, K, Kikuchi, A, Kobayashi, Y, Haginoya, K, Matsumoto, H, Kurosawa, K, Ochiai, M, Sakai, Y, Fujita, A, Miyake, N, Niihori, T, Shirota, M, Funayama, R, Nonoyama, S, Ohga, S, Kawame, H, Nakayama, K, Aoki, Y, Matsumoto, N, Kaname, T, Matsubara, Y, Shoji, W & Kure, S 2019, 'Recurrent de novo MAPK8IP3 variants cause neurological phenotypes', Annals of Neurology, vol. 85, no. 6, pp. 927-933. https://doi.org/10.1002/ana.25481
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H et al. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of Neurology. 2019 Jun;85(6):927-933. https://doi.org/10.1002/ana.25481
Iwasawa, Shinya ; Yanagi, Kumiko ; Kikuchi, Atsuo ; Kobayashi, Yasuko ; Haginoya, Kazuhiro ; Matsumoto, Hiroshi ; Kurosawa, Kenji ; Ochiai, Masayuki ; Sakai, Yasunari ; Fujita, Atsushi ; Miyake, Noriko ; Niihori, Tetsuya ; Shirota, Matsuyuki ; Funayama, Ryo ; Nonoyama, Shigeaki ; Ohga, Shouichi ; Kawame, Hiroshi ; Nakayama, Keiko ; Aoki, Yoko ; Matsumoto, Naomichi ; Kaname, Tadashi ; Matsubara, Yoichi ; Shoji, Wataru ; Kure, Shigeo. / Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. In: Annals of Neurology. 2019 ; Vol. 85, No. 6. pp. 927-933.
@article{09d44205dcdf4acea9592d02fd2b56db,
title = "Recurrent de novo MAPK8IP3 variants cause neurological phenotypes",
abstract = "c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor protein of the kinesin-1 complex and essential for axonal transport in neurons. However, an association between MAPK8IP3 variants and human disease has not been established. We identified 5 individuals from four families with recurrent de novo variants c.1732C>T (p.Arg578Cys) and c.3436C>T (p.Arg1146Cys) in MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, and corpus callosum hypoplasia. Zebrafish embryos overexpressing human mutant JIP3 showed axon varicosities of the posterior lateral line nerve, suggesting an adverse effect on the developing axons. Our results suggest that MAPK8IP3 variants cause a neurodevelopmental disease. ANN NEUROL 2019;85:927–933.",
author = "Shinya Iwasawa and Kumiko Yanagi and Atsuo Kikuchi and Yasuko Kobayashi and Kazuhiro Haginoya and Hiroshi Matsumoto and Kenji Kurosawa and Masayuki Ochiai and Yasunari Sakai and Atsushi Fujita and Noriko Miyake and Tetsuya Niihori and Matsuyuki Shirota and Ryo Funayama and Shigeaki Nonoyama and Shouichi Ohga and Hiroshi Kawame and Keiko Nakayama and Yoko Aoki and Naomichi Matsumoto and Tadashi Kaname and Yoichi Matsubara and Wataru Shoji and Shigeo Kure",
year = "2019",
month = "6",
doi = "10.1002/ana.25481",
language = "English",
volume = "85",
pages = "927--933",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "6",

}

TY - JOUR

T1 - Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

AU - Iwasawa, Shinya

AU - Yanagi, Kumiko

AU - Kikuchi, Atsuo

AU - Kobayashi, Yasuko

AU - Haginoya, Kazuhiro

AU - Matsumoto, Hiroshi

AU - Kurosawa, Kenji

AU - Ochiai, Masayuki

AU - Sakai, Yasunari

AU - Fujita, Atsushi

AU - Miyake, Noriko

AU - Niihori, Tetsuya

AU - Shirota, Matsuyuki

AU - Funayama, Ryo

AU - Nonoyama, Shigeaki

AU - Ohga, Shouichi

AU - Kawame, Hiroshi

AU - Nakayama, Keiko

AU - Aoki, Yoko

AU - Matsumoto, Naomichi

AU - Kaname, Tadashi

AU - Matsubara, Yoichi

AU - Shoji, Wataru

AU - Kure, Shigeo

PY - 2019/6

Y1 - 2019/6

N2 - c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor protein of the kinesin-1 complex and essential for axonal transport in neurons. However, an association between MAPK8IP3 variants and human disease has not been established. We identified 5 individuals from four families with recurrent de novo variants c.1732C>T (p.Arg578Cys) and c.3436C>T (p.Arg1146Cys) in MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, and corpus callosum hypoplasia. Zebrafish embryos overexpressing human mutant JIP3 showed axon varicosities of the posterior lateral line nerve, suggesting an adverse effect on the developing axons. Our results suggest that MAPK8IP3 variants cause a neurodevelopmental disease. ANN NEUROL 2019;85:927–933.

AB - c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor protein of the kinesin-1 complex and essential for axonal transport in neurons. However, an association between MAPK8IP3 variants and human disease has not been established. We identified 5 individuals from four families with recurrent de novo variants c.1732C>T (p.Arg578Cys) and c.3436C>T (p.Arg1146Cys) in MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, and corpus callosum hypoplasia. Zebrafish embryos overexpressing human mutant JIP3 showed axon varicosities of the posterior lateral line nerve, suggesting an adverse effect on the developing axons. Our results suggest that MAPK8IP3 variants cause a neurodevelopmental disease. ANN NEUROL 2019;85:927–933.

UR - http://www.scopus.com/inward/record.url?scp=85065038454&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85065038454&partnerID=8YFLogxK

U2 - 10.1002/ana.25481

DO - 10.1002/ana.25481

M3 - Article

C2 - 30945334

AN - SCOPUS:85065038454

VL - 85

SP - 927

EP - 933

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -

Access to Document