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 language | English |
|---|---|
| Pages (from-to) | 1080-1083 |
| Number of pages | 4 |
| Journal | Nature Genetics |
| Volume | 44 |
| Issue number | 10 |
| DOIs | |
| State | Published - Oct 1 2012 |
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ASJC Scopus subject areas
- Genetics
Cite this
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 journal › Article
}
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 - Zuchner, Stephan L
AU - Timmerman, Vincent
AU - Van Dijck, Patrick
AU - Rasic, Vedrana Milic
AU - Janecke, Andreas R.
AU - De Jonghe, Peter
AU - Jordanova, Albena
PY - 2012/10/1
Y1 - 2012/10/1
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.
UR - http://www.scopus.com/inward/record.url?scp=84866840027&partnerID=8YFLogxK
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 -