Scientific Newsletter Logo Retina International's

Scientific Newsletter


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

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



(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.
Goto Top

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.
Goto Top Link to PudMed

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.
Goto Top Link to PudMed

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.
Goto Top

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.
Goto Top

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.
Goto Top Link to PudMed

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.
Goto Top Link to PudMed

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.
Goto Top


Return to Retina International's
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor: irpamp@irpa.org
Return to
Database Page
This site is maintained and edited by
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