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 journalArticlepeer-review


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
Issue number10
Publication statusPublished - Oct 2012

ASJC Scopus subject areas

  • Genetics


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