Scientific Newsletter
Mutations of the Myosin VIIa Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Myosin VIIa Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Mutation map |
|
Map |
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|
|||||
| DFNA11 | 2658del9bp | GCGCCAAGAAGGCCA- GCG_________CCA | 2658 |
|
CD972099 |
|
(1) | ||
| DFNB2 | IVS3-2a-g | a-g | IVS3 |
|
CS971616 |
|
(5) | ||
| DFNB2 | Arg 244 Pro | CGC-CCC |
|
CM970935 |
|
(5) | |||
| DFNB2 | 3596insT | _-T | 3596 | 28 |
|
CI972388 |
|
(5) | |
| DFNB2 | Gly 2137 Glu | GGG-GAG |
|
CM970941 |
|
(7) | |||
| USH1B | 1277delA | ACA-A_A | 1277 | 10 |
|
|
|
(4) | |
| USH1B | Cys 628 ter | TGC-TGA | 1884 | 16 |
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|
|
(2) | |
| USHIB | > del 2 kb |
|
|
|
(1) | ||||
| USHIB | IVS5+1g-a | g-a | IVS5 |
|
CS971617 |
|
(1) | ||
| USHIB | IVS18+1g-a | g-a | IVS18 |
|
CS971618 |
|
(1) | ||
| USHIB | IVS28+2t-a | t-a | IVS28 |
|
CS971619 |
|
(3) | ||
| USHIB | IVS13-8c-g | c-g | IVS13 | Heterozygous | CS961513 |
|
(8) | ||
| USHIB | Gly 25 Arg | GGG-AGG |
|
CM970933 |
|
(3) | |||
| USHIB | 74delG | GGGGACC-GGG_ACC | 0074 | 04 | Heterozygous | CD961963 |
|
(8) | |
| USHIB | Cys 31 ter | TGC-TGA | Heterozygous | CM960971 |
|
(8) | |||
| USHIB | ##119delC | CCGCCAG-CCG_CAG | 05 | Heterozygous | CD961964 |
|
(8) | ||
| USHIB | Arg 150 ter | CGA-TGA |
|
CM950835 |
|
(6) | |||
| USHIB | Arg 212 Cys | CGT-TGT | 07 | Heterozygous | CM950837 |
|
(6) (8) | ||
| USHIB | Arg 212 His | CGT-CAT | 07 |
Heterozygous & Homozygous Compound R302H |
CM950836 |
|
(6) (8) | ||
| USHIB | Gly 214 Arg | GGA-AGA |
|
CM970934 |
|
(1) | |||
| USHIB | 652delGACATC | ATCGACATCCAC- ATC______CAC | 652 | 03 |
|
CD951755 |
|
(6) | |
| USHIB | Gln 234 ter | CAG-TAG |
|
CM950838 |
|
(6) | |||
| USHIB | Arg 302 His | CC-CAC | 09 |
Heterozygous Homozygous Compound R212H |
CM960972 |
|
(8) | ||
| USHIB | Glu 314 ter | GAG-TAG | 09 | Heterozygous | CM960973 |
|
(8) | ||
| USHIB | Tyr 333 ter | TAT-TAG | 09 | Homozygous | CM960974 |
|
(8) | ||
| USHIB | Ala 397 Asp | GCC-GAC |
|
CM970936 |
|
(1) | |||
| USHIB | Glu 450 Gln | GAG-CAG | 13 | Heterozygous | CM960975 |
|
(8) | ||
| USHIB | cd 468insGCA | ___-GCA | 13 | Heterozygous | CD9962179 |
|
(8) | ||
| USHIB | Pro 503 Leu | CCC-CTC | 13 | Heterozygous | CM960976 |
|
(8) | ||
| USHIB | cd 520del C | AGACACC-AGA_ACC |
|
CD972099 |
|
(4) | |||
| USHIB | cd 532del A | CAC-C_C | 14 | Heterozygous |
|
|
(8) | ||
| USHIB | Ala 826 Thr | GCC-ACC |
|
CM970938 |
|
(1) | |||
| USHIB | 2658del9bp | GCGCCAAGAAGGCCA- GCG_________CCA | 2658 |
|
CD972099 |
|
(1) | ||
| USHIB | Gly 955 Ser | GGC-AGC |
|
CM970939 |
|
(3) | |||
| USHIB | Arg 1861 ter | CGA-TGA |
|
CM970941 |
|
(1) | |||
| USHIB | cd 2064delC | GCCCCAG-GCC_CAG |
|
CD972100 |
|
(1) | |||
| USHIB | Gly 2137 Glu | GGG-GAG |
|
CM970941 |
|
(3) |
References
1. Adato, A., Weil, D., Kalinski, H., Pelor, Y., Ayadi, H., Petit, C., Korostishevsky, M., and Bonnetamir, B. Mutation Profile Of All 49 Exons Of The Human Myosin VIIA Gene, And Haplotype Analysis, In Usher 1b Families From Diverse Origins. 1997; Am.J.Hum.Genet. 61: 813 - 821. 2. Cuevas, J.M., Espinos, C., Millan, J.M., Sanchez, F., Trujillo, M.J., Garcia Sandoval, B., Ayuso, C., Najera, C., and Beneyto, M. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 1998; Mol.Cell Probes. 12: 417 - 420. 3. Levy, G., Leviacobas, F., Blanchard, S., Gerber, S., Largetpiet, D., Chenal, V., Liu, X.Z., Newton, V., Steel, K.P., Brown, S.D.M., Munnich, A., Kaplan, J., Petit, C., Weil, D., Levi Acobas, F., Larget Piet, D., and Brown, S.D. Myosin VIIa Gene: Heterogeneity Of The Mutations Responsible For Usher Syndrome Type Ib. 1997; Hum.Mol.Genet. 6: 111 - 116. 4. Liu, X.Z., Newton, V.E., Steel, K.P., and Brown, S.D. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. 1997; Hum.Mutat. 10: 168 - 170. 5. Liu, X.Z., Walsh, J., Mburu, P., Kendrick Jones, J., Cope, M.J., Steel, K.P., and Brown, S.D. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 1997; Nat.Genet. 16: 188 - 190. 6. Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M.D., Kelley, P.M., Kimberling, W.J., Wagenaar, M., Levi Acobas, F., Larget-Piet, D., Munnich, A., Steel, K.P., Brown, S.D.M., Petit, C., and et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. 1995; Nature. 374: 60 - 61. 7. Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi Acobas, F., Drira, M., Ayadi, H., and Petit, C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 1997; Nat.Genet. 16: 191 - 193. 8. Weston, M.D., Kelley, P.M., Overbeck, L.D., Wagenaar, M., Orten, D.J., Hasson, T., Chen, Z.Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S.G., Gorin, M.B., and Kimberling, W.J. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 1996; Am.J.Hum.Genet. 59: 1074 - 1083.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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