Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

• Published in: Genetics and molecular research Vol. 11; no. 3; pp. 2156 - 2162
• Main Authors: Li, M, Liang, J Y, Sun, Z H, Zhang, H, Yao, Z R
• Format: Journal Article
• Language: English
• Published: Brazil 01.01.2012
• Subjects: Asian Continental Ancestry Group - genetics; Base Sequence; Child, Preschool; China; Codon, Nonsense - genetics; DNA Mutational Analysis; Female; Frameshift Mutation - genetics; Hereditary Sensory and Autonomic Neuropathies - complications; Hereditary Sensory and Autonomic Neuropathies - genetics; Heterozygote; Humans; Hypohidrosis - complications; Hypohidrosis - genetics; Infant; Infant, Newborn; Male; Molecular Sequence Data; Pain Insensitivity, Congenital - complications; Pain Insensitivity, Congenital - genetics; Receptor, trkA - genetics; China

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine...