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. Previtali & 17 others Haluk Topaloǧlu, Günther Bernert, Ana Beleza-Meireles, Slobodanka Todorovic, Dusanka Savic-Pavicevic, Boryana Ishpekova, Silvia Lechner, Kristien Peeters, Tinne Ooms, Angelika F. Hahn, Stephan L Zuchner, Vincent Timmerman, Patrick Van Dijck, Vedrana Milic Rasic, Andreas R. Janecke, Peter De Jonghe, Albena Jordanova

Research output: Contribution to journalArticle

62 Citations (Scopus)

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
StatePublished - Oct 1 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.; Zuchner, Stephan L; Timmerman, Vincent; Van Dijck, Patrick; Rasic, Vedrana Milic; Janecke, Andreas R.; De Jonghe, Peter; Jordanova, Albena.

In: Nature Genetics, Vol. 44, No. 10, 01.10.2012, 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, Zuchner, SL, 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 1;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. ; Zuchner, Stephan L ; 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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