title: Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
abstract: Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious stimuli, self-mutilation, inability to sweat, and developmental delay. Clinical and genetic analyses were conducted on the affected boy.Sequencing analysis revealed an inherited novel mutation, c.1635G>C, and a novel de novo mutation, c.2197G>A, in the NTRK1 gene. In silico studies suggested that the mutations described are detrimental to the function of the protein encoded by the NTRK1 gene.The two novel mutations described here widen the genetic spectrum of CIPA, and this knowledge will benefit studies addressing this disease and pain medicine in the future.
authors.affiliation: From the Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China (QW, SG, GD, GX, YY, YZ, XZ); and Department of Anesthesiology, Wuhan General Hospital of Guangzhou Military, Wuhan, China (QW).
authors.forename: Qingli
authors.initials: Q
authors.lastname: Wang
authors.forename: Shanna
authors.initials: S
authors.lastname: Guo
authors.forename: Guangyou
authors.initials: G
authors.lastname: Duan
authors.forename: Guifang
authors.initials: G
authors.lastname: Xiang
authors.forename: Ying
authors.initials: Y
authors.lastname: Ying
authors.forename: Yuhao
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xianwei
authors.initials: X
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007007:Hypohidrosis / Q000150:complications* / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D020917:Receptor, trkA / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D020917:Receptor, trkA