GM08382
LCL from B-Lymphocyte
Description:
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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ECUADORIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR Analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.. |
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| Gene |
NTRK1 |
| Chromosomal Location |
1q23.1 |
| Allelic Variant 1 |
191315.0002; INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
| Identified Mutation |
IVSDS A-C, +3; In 2 Ecuadorian brothers with congenital insensitivity to pain with anhidrosis (GM08382 and GM08383), Indo et al. (1996) found a deletion of exon D (nucleotides 1872-2112) on 1 allele of the NTRK1 gene. Part of the same exon (nucleotides 1966-2112) was deleted on the other allele, indicating the presence of RNA splicing errors. The partial exon deletion was apparently due to activation of a cryptic splice donor site. Sequencing of genomic DNA revealed that the 5-prime splice site of an intron between exons D and E contained an A-to-C transversion in the third position. Such mutations are known to result in skipping of the preceding exon. No substitution was found in exon D and the flanking exon/intron junctions. Restriction digestion analysis demonstrated that GM08382 and GM08383 (identification numbers for cell lines in the NIGMS cell bank) were homozygous for the A-to-C transversion and that the parents were heterozygous.
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| Gene |
NTRK1 |
| Chromosomal Location |
1q23.1 |
| Allelic Variant 2 |
191315.0002; INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
| Identified Mutation |
IVSDS A-C, +3; In 2 Ecuadorian brothers with congenital insensitivity to pain with anhidrosis (GM08382 and GM08383), Indo et al. (1996) found a deletion of exon D (nucleotides 1872-2112) on 1 allele of the NTRK1 gene. Part of the same exon (nucleotides 1966-2112) was deleted on the other allele, indicating the presence of RNA splicing errors. The partial exon deletion was apparently due to activation of a cryptic splice donor site. Sequencing of genomic DNA revealed that the 5-prime splice site of an intron between exons D and E contained an A-to-C transversion in the third position. Such mutations are known to result in skipping of the preceding exon. No substitution was found in exon D and the flanking exon/intron junctions. Restriction digestion analysis demonstrated that GM08382 and GM08383 (identification numbers for cell lines in the NIGMS cell bank) were homozygous for the A-to-C transversion and that the parents were heterozygous.
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| Remarks |
Ecuadorian; frequent episodes of unexplained fever; self abusive behavior; self mutilation; abnorm histamine test; dry skin; develop delay; abnorm sural nerve bx; similarly affected brother; consang parents; see GM03904 Fibroblast |
| Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I, Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis [see comments] Nat Genet13:485-8 1996 |
| PubMed ID: 8696348 |
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| Scribanu, Atypical nerve histology in a case of familial dysautonomia type II. Pediatr Res12:536 (1978):485-8 1978 |
| PubMed ID: 8696348 |
| dbSNP |
dbSNP ID: 11118 |
| Gene Cards |
NTRK1 |
| Gene Ontology |
GO:0004714 transmembrane receptor protein tyrosine kinase activity |
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GO:0004872 receptor activity |
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GO:0005524 ATP binding |
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GO:0005887 integral to plasma membrane |
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GO:0006468 protein amino acid phosphorylation |
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GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway |
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GO:0007399 neurogenesis |
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GO:0008151 cell growth and/or maintenance |
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GO:0016021 integral to membrane |
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GO:0016740 transferase activity |
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GO:0043121 neurotrophin binding |
| NCBI Gene |
Gene ID:4914 |
| NCBI GTR |
191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1 |
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256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA |
| OMIM |
191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1 |
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256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA |
| Omim Description |
CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS OF SWANSON; CIPA |
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FAMILIAL DYSAUTONOMIA, TYPE II |
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HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV |
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HSAN-IV |
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NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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