The M581V Mutation, Associated with a Mild Form of Congenital Insensitivity to Pain with Anhidrosis, Causes Partial Inactivation of the NTRK1 Receptor
نویسندگان
چکیده
منابع مشابه
Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
متن کاملA case of congenital insensitivity to pain with anhidrosis.
Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth and extremities, self-harm behavior, mild to severe mental r...
متن کاملNovel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With Anhidrosis: A Case Report
Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious sti...
متن کاملHomozygous mutations in NTRK1 gene underlie congenital insensitivity to pain with anhidrosis in Pakistani families
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior. In the present study, we recruited two consanguineous pedigree showing pain insensitivity symptoms from Pakistan for clinical and molecular investigations. In family A, one female patient displayed classical CIPA...
متن کاملCongenital insensitivity to pain with anhidrosis: a case report.
We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2002
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2002.00140.x