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Congenital insensitivity to pain with anhidrosis in an Iranian patient.

ABSTRACT: 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 may cause the disease.

SUBMITTER: Saleh-Gohari N

PROVIDER: S-EPMC4202553 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Congenital insensitivity to pain with anhidrosis in an Iranian patient.

Saleh-Gohari Nasrollah N Mohammadi-Anaie Marzye M

Basic and clinical neuroscience 20130101 1

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 may cause the disease. ...[more]

PMID: 25337332

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Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

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Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefevre Syndrome?

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