Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Neuromuscular Disorders. 2008-02-01; 18(2): 159-166
DOI: 10.1016/j.nmd.2007.10.005
Lire sur PubMed
1. Neuromuscul Disord. 2008 Feb;18(2):159-66. Epub 2008 Feb 20.
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine
kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to
pain with anhidrosis.
Huehne K(1), Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P,
Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM,
Rautenstrauss B.
Author information:
(1)University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany.
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.
DOI: 10.1016/j.nmd.2007.10.005
PMID: 18077166 [Indexed for MEDLINE]