RGD Reference Report - Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. - Rat Genome Database

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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Authors: Weston, MD  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 
Citation: Weston MD, etal., Am J Hum Genet. 1996 Nov;59(5):1074-83.
RGD ID: 8694135
Pubmed: PMID:8900236   (View Abstract at PubMed)
PMCID: PMC1914835   (View Article at PubMed Central)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Usher Syndrome Type 1B  IAGP 8694135DNA:mutations: :multipleRGD 
Usher Syndrome Type 1B  ISOMYO7A (Homo sapiens)8694135; 8694135DNA:mutations: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Myo7a  (myosin VIIA)

Genes (Mus musculus)
Myo7a  (myosin VIIA)

Genes (Homo sapiens)
MYO7A  (myosin VIIA)


Additional Information