Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SPRED1 gene encodes a protein which is like the protein encoded by the NF1 gene invoved in intracellular signal transduction. Mutations cause an autosomal dominant neurofibromatosis like syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Brems H et al. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 
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| 2. |
Pasmant E et al. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
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| 3. |
Spurlock G et al. (2009) SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
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| 4. |
Spencer E et al. (2011) Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
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| 5. |
Laycock-van Spyk S et al. (2011) Identification of five novel SPRED1 germline mutations in Legius syndrome.
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| 6. |
Brems H et al. (2012) Review and update of SPRED1 mutations causing Legius syndrome.
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| 7. |
Wakioka T et al. (2001) Spred is a Sprouty-related suppressor of Ras signalling.
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| 8. |
Kato R et al. (2003) Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation.
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| 9. |
Nonami A et al. (2004) Spred-1 negatively regulates interleukin-3-mediated ERK/mitogen-activated protein (MAP) kinase activation in hematopoietic cells.
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| 10. |
Inoue H et al. (2005) Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness.
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| 11. |
Wang S et al. (2008) The endothelial-specific microRNA miR-126 governs vascular integrity and angiogenesis.
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| 12. |
Hollander JA et al. (2010) Striatal microRNA controls cocaine intake through CREB signalling.
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| 13. |
Orphanet article Orphanet ID 159367
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| 14. |
NCBI article NCBI 161742
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| 15. |
OMIM.ORG article Omim 609291
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| 16. |
Wikipedia article Wikipedia EN (SPRED1)
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