title: Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
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.
authors.affiliation: Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zimoń
authors.forename: Jonathan
authors.initials: J
authors.lastname: Baets
authors.forename: Leonardo
authors.initials: L
authors.lastname: Almeida-Souza
authors.forename: Els
authors.initials: E
authors.lastname: De Vriendt
authors.forename: Jelena
authors.initials: J
authors.lastname: Nikodinovic
authors.forename: Yesim
authors.initials: Y
authors.lastname: Parman
authors.forename: Esra
authors.initials: E
authors.lastname: Battaloğlu
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Matur
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Michaela
authors.initials: M
authors.lastname: Auer-Grumbach
authors.forename: Peter
authors.initials: P
authors.lastname: De Rijk
authors.forename: Britt-Sabina
authors.initials: BS
authors.lastname: Petersen
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Erik
authors.initials: E
authors.lastname: Fransen
authors.forename: Philip
authors.initials: P
authors.lastname: Van Damme
authors.forename: Wolfgang N
authors.initials: WN
authors.lastname: Löscher
authors.forename: Nina
authors.initials: N
authors.lastname: Barišić
authors.forename: Zoran
authors.initials: Z
authors.lastname: Mitrovic
authors.forename: Stefano C
authors.initials: SC
authors.lastname: Previtali
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: Günther
authors.initials: G
authors.lastname: Bernert
authors.forename: Ana
authors.initials: A
authors.lastname: Beleza-Meireles
authors.forename: Slobodanka
authors.initials: S
authors.lastname: Todorovic
authors.forename: Dusanka
authors.initials: D
authors.lastname: Savic-Pavicevic
authors.forename: Boryana
authors.initials: B
authors.lastname: Ishpekova
authors.forename: Silvia
authors.initials: S
authors.lastname: Lechner
authors.forename: Kristien
authors.initials: K
authors.lastname: Peeters
authors.forename: Tinne
authors.initials: T
authors.lastname: Ooms
authors.forename: Angelika F
authors.initials: AF
authors.lastname: Hahn
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Dijck
authors.forename: Vedrana Milic
authors.initials: VM
authors.lastname: Rasic
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Albena
authors.initials: A
authors.lastname: Jordanova
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D015870:Gene Expression; D005808:Genes, Recessive; D056726:Genetic Association Studies; D005816:Genetic Complementation Test; D015417:Hereditary Sensory and Motor Neuropathy / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D051379:Mice; D020125:Mutation, Missense; D009222:Myotonia / Q000201:enzymology / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000201:enzymology / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
chemical_list: C063306:HINT1 protein, human; D009419:Nerve Tissue Proteins; D029701:Saccharomyces cerevisiae Proteins