scholarly journals Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15

2000 ◽  
Vol 17 (1) ◽  
pp. 72-72 ◽  
Author(s):  
Marek Bodzioch ◽  
Katarzyna Lapicka ◽  
Charalampos Aslanidis ◽  
Marek Kacinski ◽  
Gerd Schmitz
Keyword(s):  
Tyrosine Kinase ◽  
Splice Junction ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Gene Encoding ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

scholarly journals 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

2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Nonsense Mutation ◽  
Mutation Screening ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Site Mutation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

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.

Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal Chromosome 1

1997 ◽  
Vol 8 (12) ◽  
pp. 941-942 ◽  
Author(s):  
Jennifer N. Murdoch ◽  
Jane Eddleston ◽  
Philip Stanier ◽  
Andrew J. Copp
Keyword(s):  
Tyrosine Kinase ◽  
Mouse Gene ◽  
Receptor Type ◽  
Chromosome 1 ◽  
Tyrosine Kinase Receptor ◽  
Gene Encoding ◽  
Distal Chromosome
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