title: Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
abstract: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) or congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal-recessive disorder affecting the neurotrophin signal transduction pathway. HSAN IV is characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, self mutilating behaviour and frequent mental retardation. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) are associated with this disorder. We investigated NTRK1 mutations in five HSAN IV patients and one less typical patient with hypohidrosis, insensitivity to pain as well as motor- and sensory deficits in the peripheral nervous system. For the HSAN IV patients we identified a homozygous missense mutation (p.I572S), a homozygous deletion of 1985bp (g.7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
authors: University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany.
authors: Kathrin
authors: K
authors: Huehne
authors: Christiane
authors: C
authors: Zweier
authors: Klaus
authors: K
authors: Raab
authors: Sylvie
authors: S
authors: Odent
authors: Martine
authors: M
authors: Bonnaure-Mallet
authors: Jean-Louis
authors: JL
authors: Sixou
authors: Pierre
authors: P
authors: Landrieu
authors: Cyril
authors: C
authors: Goizet
authors: Jean
authors: J
authors: Sarlangue
authors: Matthias
authors: M
authors: Baumann
authors: Thomas
authors: T
authors: Eggermann
authors: Anita
authors: A
authors: Rauch
authors: Sinje
authors: S
authors: Ruppert
authors: Georg M
authors: GM
authors: Stettner
authors: Bernd
authors: B
authors: Rautenstrauss
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020917:Receptor, trkA / Q000235:genetics*
chemical_list: D020917:Receptor, trkA