Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Magdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, Els De Vriendt, Jelena Nikodinovic, Yesim Parman, Esra Battaloǧlu, Zeliha Matur, Velina Guergueltcheva, Ivailo Tournev, Michaela Auer-Grumbach, Peter De Rijk, Britt Sabina Petersen, Thomas Müller, Erik Fransen, Philip Van Damme, Wolfgang N. Löscher, Nina Bariši, Zoran Mitrovic, Stefano C. PrevitaliHaluk Topaloǧlu, Günther Bernert, Ana Beleza-Meireles, Slobodanka Todorovic, Dusanka Savic-Pavicevic, Boryana Ishpekova, Silvia Lechner, Kristien Peeters, Tinne Ooms, Angelika F. Hahn, Stephan Züchner, Vincent Timmerman, Patrick Van Dijck, Vedrana Milic Rasic, Andreas R. Janecke, Peter De Jonghe, Albena Jordanova

Research output: Contribution to journalArticle

Abstract

Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.

Original languageEnglish
Pages (from-to)1080-1083
Number of pages4
JournalNature Genetics
Volume44
Issue number10
DOIs
Publication statusPublished - Oct 2012

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Isaacs Syndrome
Genetic Heterogeneity
Histidine
Carrier Proteins
Nucleotides
Phenotype
Mutation
Proteins
Inherited Peripheral Neuropathy

ASJC Scopus subject areas

  • Genetics

Cite this

Zimoń, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., ... Jordanova, A. (2012). Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics, 44(10), 1080-1083. https://doi.org/10.1038/ng.2406

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. / Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De Vriendt, Els; Nikodinovic, Jelena; Parman, Yesim; Battaloǧlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo; Auer-Grumbach, Michaela; De Rijk, Peter; Petersen, Britt Sabina; Müller, Thomas; Fransen, Erik; Van Damme, Philip; Löscher, Wolfgang N.; Bariši, Nina; Mitrovic, Zoran; Previtali, Stefano C.; Topaloǧlu, Haluk; Bernert, Günther; Beleza-Meireles, Ana; Todorovic, Slobodanka; Savic-Pavicevic, Dusanka; Ishpekova, Boryana; Lechner, Silvia; Peeters, Kristien; Ooms, Tinne; Hahn, Angelika F.; Züchner, Stephan; Timmerman, Vincent; Van Dijck, Patrick; Rasic, Vedrana Milic; Janecke, Andreas R.; De Jonghe, Peter; Jordanova, Albena.

In: Nature Genetics, Vol. 44, No. 10, 10.2012, p. 1080-1083.

Research output: Contribution to journalArticle

Zimoń, M, Baets, J, Almeida-Souza, L, De Vriendt, E, Nikodinovic, J, Parman, Y, Battaloǧlu, E, Matur, Z, Guergueltcheva, V, Tournev, I, Auer-Grumbach, M, De Rijk, P, Petersen, BS, Müller, T, Fransen, E, Van Damme, P, Löscher, WN, Bariši, N, Mitrovic, Z, Previtali, SC, Topaloǧlu, H, Bernert, G, Beleza-Meireles, A, Todorovic, S, Savic-Pavicevic, D, Ishpekova, B, Lechner, S, Peeters, K, Ooms, T, Hahn, AF, Züchner, S, Timmerman, V, Van Dijck, P, Rasic, VM, Janecke, AR, De Jonghe, P & Jordanova, A 2012, 'Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia', Nature Genetics, vol. 44, no. 10, pp. 1080-1083. https://doi.org/10.1038/ng.2406
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics. 2012 Oct;44(10):1080-1083. https://doi.org/10.1038/ng.2406
Zimoń, Magdalena ; Baets, Jonathan ; Almeida-Souza, Leonardo ; De Vriendt, Els ; Nikodinovic, Jelena ; Parman, Yesim ; Battaloǧlu, Esra ; Matur, Zeliha ; Guergueltcheva, Velina ; Tournev, Ivailo ; Auer-Grumbach, Michaela ; De Rijk, Peter ; Petersen, Britt Sabina ; Müller, Thomas ; Fransen, Erik ; Van Damme, Philip ; Löscher, Wolfgang N. ; Bariši, Nina ; Mitrovic, Zoran ; Previtali, Stefano C. ; Topaloǧlu, Haluk ; Bernert, Günther ; Beleza-Meireles, Ana ; Todorovic, Slobodanka ; Savic-Pavicevic, Dusanka ; Ishpekova, Boryana ; Lechner, Silvia ; Peeters, Kristien ; Ooms, Tinne ; Hahn, Angelika F. ; Züchner, Stephan ; Timmerman, Vincent ; Van Dijck, Patrick ; Rasic, Vedrana Milic ; Janecke, Andreas R. ; De Jonghe, Peter ; Jordanova, Albena. / Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. In: Nature Genetics. 2012 ; Vol. 44, No. 10. pp. 1080-1083.
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