Description:
NEUROFIBROMATOSIS, TYPE I; NF1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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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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| 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 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 |
NF1 |
| Chromosomal Location |
17q11.2 |
| Allelic Variant 1 |
162200.0001; NEUROFIBROMATOSIS, TYPE I |
| Identified Mutation |
ALU INS; Wallace et al. [Nature 353: 864 (1991)] demonstrated a de novo Alu repetitive element insertion into an intron of the NF1 gene, which resulted in deletion of the downstream exon during splicing and consequently shifted the reading frame. This previously undescribed mechanism of mutation indicated that Alu retrotransposition is an ongoing process in the human germ line. The patient was an isolated case in his family. The insertion, 300-500 bp, began 44 bp upstream of exon 6. This appears to have been the first report of a disease-causing mutation consisting of a de novo Alu insertion. |
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| Gene |
NF1 |
| Chromosomal Location |
17q11.2 |
| Allelic Variant 1 |
162200.0001; NEUROFIBROMATOSIS, TYPE I |
| Identified Mutation |
ALU INS; Wallace et al. [Nature 353: 864 (1991)] demonstrated a de novo Alu repetitive element insertion into an intron of the NF1 gene, which resulted in deletion of the downstream exon during splicing and consequently shifted the reading frame. This previously undescribed mechanism of mutation indicated that Alu retrotransposition is an ongoing process in the human germ line. The patient was an isolated case in his family. The insertion, 300-500 bp, began 44 bp upstream of exon 6. This appears to have been the first report of a disease-causing mutation consisting of a de novo Alu insertion. |
| Remarks |
Multiple cervical nerve root neurofibromas; 1 peripheral neurofibroma; macrocephaly; Lisch nodules; no cafe au lait spots or freckling; de novo insertion of an Alu repetitive element close to exon 6 of NF1 gene leading to abnormal gene splicing |
| Chou LS, Liu CS, Boese B, Zhang X, Mao R, DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model Clinical chemistry56:62-72 2009 |
| PubMed ID: 19910506 |
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| Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS, A de novo Alu insertion results in neurofibromatosis type 1 Nature353:864-6 1991 |
| PubMed ID: 1719426 |
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| Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, et al, Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients [published erratum appears in Science 1990 Dec 21;250(4988):1749] Science249:181-6 1990 |
| PubMed ID: 2134734 |
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