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- Title
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.
- Authors
Liu, Sen; Wu, Nan; Liu, Jiaqi; Ming, Xuan; Chen, Jun; Pavelec, Derek; Su, Xinlin; Qiu, Guixing; Tian, Ye; Giampietro, Philip; Wu, Zhihong
- Abstract
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder. It has been reported that the defect in the NTRK1 gene encoding tropomyosin-related kinase A (TrkA) can cause congenital insensitivity to pain with anhidrosis. Nerve growth factor (NGF), the product of NGFB, mediates biological effects by binding to and activating tropomyosin-related kinase A. In addition, necdin (encoded by NDN) is also essential in nerve growth factor–tropomyosin-related kinase A pathway. We performed mutation analysis in NTRK1, NGFB, and NDN genes in a Chinese Han 17-year-old female patient with congenital insensitivity to pain with anhidrosis and her healthy family members. As a result, the patient was found to have a novel insertion in exon 7 (c.727insT) of NTRK1, which causes premature termination, and a single nucleotide polymorphism (rs2192206 G>A) in NDN. Our findings imply that the genetic variations of the nerve growth factor–tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis.
- Subjects
CONGENITAL insensitivity to pain; ANHIDROSIS; TROPOMYOSINS; NERVE growth factor; SINGLE nucleotide polymorphisms; KINASES
- Publication
Journal of Child Neurology, 2015, Vol 30, Issue 10, p1357
- ISSN
0883-0738
- Publication type
Case Study
- DOI
10.1177/0883073814552438