Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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.

• Authors: Sen Liu, Nan Wu, Jiaqi Liu, Xuan Ming, Jun Chen, Derek Pavelec, Xinlin Su, Guixing Qiu, Ye Tian, Philip Giampietro, Zhihong Wu
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 10 Pg. 1357-61 (Sep 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25316729 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014.

Chemical References

• Receptor, trkA

Topics

• Adolescent
• Asian People (genetics)
• China
• DNA Mutational Analysis
• Female
• Frameshift Mutation
• Hereditary Sensory and Autonomic Neuropathies (genetics, pathology, physiopathology)
• Humans
• Pedigree
• Receptor, trkA (genetics)