PMID- 10233776
OWN - NLM
STAT- MEDLINE
DCOM- 19990618
LR  - 20171116
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 112
IP  - 5
DP  - 1999 May
TI  - A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a
      family with congenital insensitivity to pain with anhidrosis.
PG  - 810-4
AB  - A nerve growth factor receptor encoded by the TRKA gene plays an important part
      in the formation of autonomic neurons and small sensory neurons in dorsal root
      ganglia and in signal transduction through its intracytoplasmic tyrosine kinase
      domain. 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. We examined the TRKA gene in five generations of a large 
      Japanese family with many consanguineous marriages who live in a small remote
      island of the southern part of Japan. We found a novel point mutation at
      nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine
      kinase domain. Two of the three affected patients were homozygous for this
      mutation; however, the third affected patient was heterozygous. Further analysis 
      revealed that the third patient was a compound heterozygote with the Met-581-Val 
      mutation in one allele and with a single base C deletion mutation at nucleotide
      1726 in exon 14 in the other allele, resulting in a frameshift and premature
      termination codon.
FAU - Yotsumoto, S
AU  - Yotsumoto S
AD  - Department of Dermatology, Faculty of Medicine, Kagoshima University,
      Sakuragaoka, Japan.
FAU - Setoyama, M
AU  - Setoyama M
FAU - Hozumi, H
AU  - Hozumi H
FAU - Mizoguchi, S
AU  - Mizoguchi S
FAU - Fukumaru, S
AU  - Fukumaru S
FAU - Kobayashi, K
AU  - Kobayashi K
FAU - Saheki, T
AU  - Saheki T
FAU - Kanzaki, T
AU  - Kanzaki T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Nerve Growth Factor)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Receptor, trkA)
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Female
MH  - Genes, Recessive
MH  - Genetic Carrier Screening
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Hypohidrosis/*complications/*genetics
MH  - Male
MH  - Middle Aged
MH  - Pain Insensitivity, Congenital/*complications/*genetics
MH  - Pedigree
MH  - *Point Mutation
MH  - Protein-Tyrosine Kinases/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Receptor, trkA
MH  - Receptors, Nerve Growth Factor/*genetics
EDAT- 1999/05/08 00:00
MHDA- 1999/05/08 00:01
CRDT- 1999/05/08 00:00
PHST- 1999/05/08 00:00 [pubmed]
PHST- 1999/05/08 00:01 [medline]
PHST- 1999/05/08 00:00 [entrez]
AID - 10.1046/j.1523-1747.1999.00569.x [doi]
AID - S0022-202X(15)40486-5 [pii]
PST - ppublish
SO  - J Invest Dermatol. 1999 May;112(5):810-4. doi: 10.1046/j.1523-1747.1999.00569.x.