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

Authors:
Magdalena Zimoń, 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
Year of publication:
2012
Volume:
44
Issue:
10
Issn:
1061-4036
Journal title abbreviated:
NAT GENET
Journal title long:
Nature genetics
Impact factor:
27.603
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.