title: Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.
abstract: Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron-exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Li
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Xiang
authors.affiliation: 2 Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wei
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Minjuan
authors.initials: M
authors.lastname: Liu
authors.affiliation: 2 Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Sun
authors.affiliation: 1 Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
mesh_terms: D000293:Adolescent; D002648:Child; D005091:Exons; D015870:Gene Expression; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics* / Q000503:physiopathology; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D020917:Receptor, trkA / Q000235:genetics*; D012652:Self Mutilation / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: D020917:Receptor, trkA
keywords: Congenital insensitivity to pain with anhidrosis; NTRK1; hereditary sensory and autonomic neuropathy type IV; mutation