Two families from New England with Usher syndrome type IC with distinct haplotypes

American Journal of Ophthalmology

Volumn 131, Issue 3, 2001, Pages 355-358

  DeAngelis, Margaret M ^a   McGee, Terri L ^a   Keats, Bronya J B ^c   Slim, Rima ^d   Berson, Eliot L ^b   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ALLELE; ARTICLE; CASE REPORT; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; GENE LOCUS; GENE MUTATION; GENETIC MARKER; GENOTYPE; HAPLOTYPE; HEARING LOSS; HOMOZYGOSITY; HUMAN; LEBANON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; UNITED STATES; USHER SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CARRIER PROTEINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; NEW ENGLAND; PEDIGREE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0035119842     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00807-2     Document Type: Article

References (17)

1. Smith RJ, Berlin CI, Hejtmancik JF, et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994;50:32-38.
2. Davenport S, Omenn GS. The heterogeneity of Usher syndrome. Excerpta Medica Foundation, International Congress Series 426, 1977:87-88.
3. Joensuu T, Blanco G, Pakarinen L, et al. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 1996;38:255-263.
4. Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992;14:979-987.
5. Kimberling WJ, Moller CG, Davenport S, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 1992;14:988-994.
6. Smith RJH, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 1992;14:995-1002.
7. Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994;54:681-686.
8. Wayne S, Der KV, Schloss M, et al. Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10. Hum Mol Genet 1996;5:1689-1692.
9. Chaib H, Kaplan J, Gerber S, et al. A newly identified locus for Usher syndrome type I, L7SH1E, maps to chromosome 21q21. Hum Mol Genet 1997;6:27-31.
10. Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH. Localization of the Usher syndrome type 1F (Ush 1F) to chromosome 10. Am J Hum Genet 1996;61:A300.
11. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60-61.
12. Saouda M, Mansour A, Bou MY, et al. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum Genet 1998;103:193-198.
13. Ayyagari R, Nestorowicz A, Li Y, et al. Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. Genome Res 1996;6:504-514.
14. DeAngelis MM, Doucet JP, Drury S, et al. Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene. Biochim Biophys Acta 1998;1407:84-91.
15. Higgins MJ, Day CD, Smilinich NJ, et al. Contig maps and genomic sequencing identify candidate genes in the usher 1C locus. Genome Res 1998;8:57-68.
16. Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nature Genet 2000;26:51-55.
17. Bitner-Glindzicz M, Lindley KJ, Ruthland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nature Genet 2000;26:56-60.