Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
| References: | Genomics. 1992 Dec;14(4):995-1002. (PMID: 1478678) Genomics. 1992 Dec;14(4):988-94. (PMID: 1478677) Science. 1993 Jul 2;261(5117):50-8. (PMID: 8316857) Science. 1993 Jul 2;261(5117):58-65. (PMID: 8316858) Hum Mol Genet. 1994 Jun;3(6):989-93. (PMID: 7951250) Nature. 1995 Mar 2;374(6517):60-1. (PMID: 7870171) Nature. 1995 Mar 2;374(6517):62-4. (PMID: 7870172) J Am Acad Audiol. 1995 Jan;6(1):63-72. (PMID: 7696679) Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3864-8. (PMID: 7731997) Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9815-9. (PMID: 7568224) Nucleic Acids Res. 1995 Sep 11;23(17):3419-25. (PMID: 7567451) Hum Mol Genet. 1995;4 Spec No:1721-7. (PMID: 8541871) Hum Mol Genet. 1995 Jul;4(7):1169-71. (PMID: 8528204) Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3232-7. (PMID: 8622919) Annu Rev Cell Dev Biol. 1995;11:633-75. (PMID: 8689571) Curr Opin Cell Biol. 1996 Feb;8(1):97-105. (PMID: 8791411) Hum Mol Genet. 1996 Aug;5(8):1171-8. (PMID: 8842737) Genomics. 1996 Sep 15;36(3):440-8. (PMID: 8884267) Trends Genet. 1991 Jan;7(1):5. (PMID: 2003336) Hum Genet. 1992 Sep-Oct;90(1-2):41-54. (PMID: 1427786) Genomics. 1992 Dec;14(4):979-87. (PMID: 1478676) Science. 1993 Jul 2;261(5117):35-6. (PMID: 8316856) |
|---|---|
| Grant Information: | P01 DC01813-01 United States DC NIDCD NIH HHS; P01 DK38979 United States DK NIDDK NIH HHS; R01 EY05627 United States EY NEI NIH HHS |
| Substance Nomenclature: | 0 (MYO7A protein, human) 0 (Myosin VIIa) EC 3.6.4.1 (Myosins) EC 3.6.4.2 (Dyneins) |
| Entry Date(s): | Date Created: 19961101 Date Completed: 19961211 Latest Revision: 20200824 |
| Update Code: | 20221213 |
| PubMed Central ID: | PMC1914835 |
| PMID: | 8900236 |
| Autor: | Weston MD; Department of Genetics, Boys Town National Research Hospital, University of Nebraska Medical Center, Omaha, USA., Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ |
| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 1996 Nov; Vol. 59 (5), pp. 1074-83. |
| Abstrakt: | Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16. |
| Databáze: | MEDLINE |
| Externí odkaz: |
|