TY - JOUR
T1 - Usher syndrome
T2 - Clinical findings and gene localization studies
AU - Kimberling, William J.
AU - Möller, Claes G.
AU - Davenport, Sandra L.H.
AU - Lund, Gunnar
AU - Grissom, Timothy J.
AU - Priluck, Ira
AU - White, Valorie
AU - Weston, Michael D.
AU - Biscone-Halterman, Karen
AU - Brookhouser, Patrick E.
PY - 1989/1
Y1 - 1989/1
N2 - The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.
AB - The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.
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M3 - Article
C2 - 2562904
AN - SCOPUS:0024496414
SN - 0023-852X
VL - 99
SP - 66
EP - 72
JO - Laryngoscope
JF - Laryngoscope
IS - 1
ER -