A Nonsense Mutation in the <i>SCN9A</i> Gene in Congenital Insensitivity to Pain
نویسندگان
چکیده
منابع مشابه
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
BACKGROUND Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. METHODS We analyzed the DNA from members of a consanguineous Paki...
متن کاملA Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain
Background: Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. Methods: We analyzed the DNA from members of a consanguineous Paki...
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Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...
متن کاملCongenital 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 کاملIdentification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis
Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening us...
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ژورنال
عنوان ژورنال: Dermatology
سال: 2010
ISSN: 1421-9832,1018-8665
DOI: 10.1159/000314692