The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor [2]

Journal of Investigative Dermatology

Volumn 119, Issue 4, 2002, Pages 978-979

  Miranda, Claudia ^a   Selleri, Silvia ^a   Pierotti, Marco A ^a   Greco, Angela ^a  

^a NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

ANHIDROSIS; AUTOMUTILATION; AUTONOMIC NEUROPATHY; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CLINICAL FEATURE; CONGENITAL ANALGESIA; CONSANGUINITY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FEVER; GENE; GENE INACTIVATION; GENE MUTATION; HUMAN; IMMUNOPRECIPITATION; LETTER; MENTAL DEFICIENCY; MISSENSE MUTATION; NERVE CELL DIFFERENTIATION; NTRK1 GENE; PATHOGENESIS; PHOSPHORYLATION; PRIORITY JOURNAL; THERMOREGULATION; WESTERN BLOTTING;

EID: 0036428631     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.00140.x     Document Type: Letter

References (9)

1. Axelrod FB: Autonomic and sensory disorders. In: Emory, AEH, Rimoin, DL (eds). Principles of Medical Genetics. Edinburgh: Churchill Livingstone, 1996, p 397-411
2. Axelrod FB, Pearson J: Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 138:947-954, 1984
3. Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. Am J Hum Genet 64:1207-1210, 1999
4. Greco A, Villa R, Fusetti L, Orlandi R, Pierotti MA: The Gly571Arg mutation, associated with the autonomic and sensory disorder CIPA, causes the inactivation of the NTRK1/NGF receptor. J Cell Physiol 182:127-133, 2000
5. Indo Y: Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK) (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat 18:462-471, 2001
6. Miranda C, Di Virgilio M, Selleri S, Zanotti G, Pagliardini S, Pierotti MA, Greco A: Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type1/nerve growth factor receptor mutations. J Biol Chem 277:6455-6462, 2002
7. Rosemberg S, Marie SK, Kliemann S: Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatric Neurol 11:50-56, 1994
8. Tagliabue E, Ghirelli C, Lombardi L, et al: Production of a monoclonal antibody directed against the high-affinity nerve growth factor receptor. Int J Biol Markers 14:68-72, 1999
9. Yotsumoto S, Setoyama M, Hozumi H, et al: A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. J Invest Dermatol 112:810-814, 1999