TY - JOUR
T1 - Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
AU - Zimoń, Magdalena
AU - Baets, Jonathan
AU - Almeida-Souza, Leonardo
AU - De Vriendt, Els
AU - Nikodinovic, Jelena
AU - Parman, Yesim
AU - Battaloǧlu, Esra
AU - Matur, Zeliha
AU - Guergueltcheva, Velina
AU - Tournev, Ivailo
AU - Auer-Grumbach, Michaela
AU - De Rijk, Peter
AU - Petersen, Britt Sabina
AU - Müller, Thomas
AU - Fransen, Erik
AU - Van Damme, Philip
AU - Löscher, Wolfgang N.
AU - Bariši, Nina
AU - Mitrovic, Zoran
AU - Previtali, Stefano C.
AU - Topaloǧlu, Haluk
AU - Bernert, Günther
AU - Beleza-Meireles, Ana
AU - Todorovic, Slobodanka
AU - Savic-Pavicevic, Dusanka
AU - Ishpekova, Boryana
AU - Lechner, Silvia
AU - Peeters, Kristien
AU - Ooms, Tinne
AU - Hahn, Angelika F.
AU - Züchner, Stephan
AU - Timmerman, Vincent
AU - Van Dijck, Patrick
AU - Rasic, Vedrana Milic
AU - Janecke, Andreas R.
AU - De Jonghe, Peter
AU - Jordanova, Albena
N1 - Funding Information:
We are grateful to the study participants and their families for their cooperation. We thank A. Suls, N. Avonce, G. Milternberger-Milteny, B. Ramirez Escorcia, W. Glassee, E. Ydens and C. Claes for their expert help with some of the experiments; the VIB Genetic Service Facility for sequencing and cell maintenance support; and C. Brenner (University of Iowa) for providing the BY8-5c yeast strain. This work was supported by the University of Antwerp (in part by IWS BOF 2008 23064 to A.J. and P.D.J.); the Fund for Scientific Research–Flanders (to A.J., P.D.J. and V.T.); the Medical Foundation Queen Elisabeth (GSKE; to P.D.J. and V.T.); the Interuniversity Attraction Poles P6/43 program of the Belgian Federal Science Policy Office (BELSPO; to A.J., P.D.J. and V.T.); the Methusalem Excellence Grant of the Flemish Government; the Association Belge Contre les Maladies Neuromusculaires (ABMM; to A.J., J.B., P.D.J. and V.T.); the VIB TechWatch Fund (to A.J. and P.D.J.), the Medizinische Forschungsfonds Tirol (MFF Tirol) (to S.L. and A.R.J.), the US National Institue of Neurological Disorders and Stroke (NINDS; R01NS075764, U54NS065712-03 and R01NS052767 to S.Z.), the Austrian Science Fond (FWF; P23223-B19 to M.A.-G.) and the Ministry of Science and Technology of the Republic of Serbia (17 3016 and 17 508 to V.M.R. and D.S.-P.). J.B., M.Z. and K.P. are supported by a PhD fellowship, and P. Van Damme is supported by a clinical investigatorship of the Fund for Scientific Research Flanders (FWO-Vlaanderen). All patients or their legal representatives signed an informed consent form prior to enrollment. This study was approved by local institutional review boards.
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=84866840027&partnerID=8YFLogxK
U2 - 10.1038/ng.2406
DO - 10.1038/ng.2406
M3 - Article
C2 - 22961002
AN - SCOPUS:84866840027
VL - 44
SP - 1080
EP - 1083
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 10
ER -