2. Academic Validation
  3. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

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

  • Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406.
Magdalena Zimoń 1,  Jonathan Baets,  Leonardo Almeida-Souza,  Els De Vriendt,  Jelena Nikodinovic,  Yesim Parman,  Esra Battaloğlu,  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 Barišić,  Zoran Mitrovic,  Stefano C Previtali,  Haluk Topaloğlu,  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
Affiliations

Affiliation

  • 1 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.
PMID: 22961002 DOI: 10.1038/ng.2406
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.

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