Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis
Journal
Journal of Child Neurology
Journal Volume
25
Journal Issue
12
Pages
1548-1551
Date Issued
2010
Author(s)
Abstract
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies. This report is of a 6-month-old male infant with typical symptoms and signs of congenital insensitivity to pain with anhidrosis. He had a homozygous insertion mutation with c.2086-2087 ins C of neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene with both parents as heterozygous carriers. This mutation may have a strong relation to hereditary sensory and autonomic neuropathy type IV Taiwanese patients. This is the youngest reported patient in Taiwan and first reported with congenital insensitivity to pain with mutation of NTRK1 gene inherited from the parents. Early diagnosis may provide appropriate medical care and education for these children and their families for better prognosis. ? 2010 The Author(s).
SDGs
Other Subjects
neurotrophic tyrosine kinase receptor 1; protein tyrosine kinase; unclassified drug; anhidrosis; article; clinical article; clinical feature; congenital analgesia; congenital insensitivity to pain with anhidrosis; gene insertion; gene mutation; heterozygosity; human; infant; laboratory test; male; neurologic examination; physical examination; priority journal; Taiwan; Age of Onset; Asian Continental Ancestry Group; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Testing; Genotype; Hereditary Sensory and Autonomic Neuropathies; Humans; Infant; Male; Mutation; Receptor, trkA; Taiwan
Type
journal article