|
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 |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disease caused by mutations in the NTRK1 gene.
|
22957891 |
2014 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain.
|
15534759 |
2004 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel.
|
10861667 |
2000 |
|
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 |
UNIPROT |
Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation.
|
10233776 |
1999 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
|
22653642 |
2012 |
|
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 |
We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation.
|
19089473 |
2009 |
|
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 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
|
18077166 |
2008 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families.
|
10330344 |
1999 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In fact, receptor rearrangements or point mutations convert RET and NTRK1 in dominantly acting transforming genes leading to thyroid tumors, whereas inactivating mutations, associated with Hirschsprung's disease (HSCR) and congenital insensitivity to pain with anhidrosis (CIPA), impair RET and NTRK1 functions, respectively.
|
12652644 |
2003 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel.
|
10861667 |
2000 |
|
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 |
We present detailed description of a rare, mild HSAN4 phenotype associated with two novel NTRK1 mutations.
|
18657423 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation.
|
10233776 |
1999 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
We report the results of the NTRK1 sequence analysis in a CIPA family from Poland.
|
11139246 |
2001 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
In view of the fact that defects in TRKA cause CIPA, the molecular pathology of CIPA provides unique opportunities to explore critical roles of the NGF-TRKA receptor system.
|
12102460 |
2002 |
|
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 |
This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.
|
18322713 |
2008 |