|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
|
30677517 |
2020 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study extends the spectrum of NTRK1 mutations observed in patients with a diagnosis of CIPA and is the first to propose that congenital loss of permanent teeth may occur in CIPA patients.
|
30075136 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability.
|
29619836 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA.
|
29407522 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder caused by a mutation in the neurotrophic tyrosine kinase receptor (NTRK1) gene.
|
29595626 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Over 105 NTRK1 mutations have been reported in CIPA patients worldwide.
|
30201336 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Current findings expand our knowledge about the mutation spectrum of NTRK1 in Chinese CIPA patients and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.
|
29770739 |
2018 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G >A, c.1565G >A, c.1970T >C, c.2096T >C, c.2254T >A, c.2288G >C, and c.2311C >T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which were predicted pathogenic by in silico analysis.
|
27676246 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
|
28328124 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
|
28328124 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis.
|
28177573 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis.
|
28177573 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G >A, c.1565G >A, c.1970T >C, c.2096T >C, c.2254T >A, c.2288G >C, and c.2311C >T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which were predicted pathogenic by in silico analysis.
|
27676246 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.
|
28192073 |
2017 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
|
28940190 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the detailed phenotypes, as well as both recurrent and novel mutations in NTRK1 in 2 Chinese patients with CIPA.
|
28192073 |
2017 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.
|
28345382 |
2017 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family.
|
27772781 |
2016 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To get an insight in the effect of NTRK1 mutations in the cognitive phenotype we biochemically characterized three TrkA mutations identified in children diagnosed of CIPA with variable ID.
|
27551041 |
2016 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1.
|
27265460 |
2016 |
|
HSAN Type IV
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
HSAN Type IV
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
|
27551041 |
2016 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
After exclusion of obviously pathogenic mutations in NTRK1, the most common cause of CIPA, whole exome sequencing (WES) was carried out in a CIPA patient with unrelated parents.
|
27184211 |
2016 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.
|
25984678 |
2015 |