TY - JOUR
T1 - Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
AU - Boycott, Kym M.
AU - Pearce, William G.
AU - Musarella, Maria A.
AU - Weleber, Richard G.
AU - Maybaum, Tracy A.
AU - Birch, David G.
AU - Miyake, Yozo
AU - Young, Rockefeller S.L.
AU - Bech-Hansen, N. Torben
N1 - Funding Information:
We would like to thank Drs. M. Mets, M. Pierpont, and M. Ruttum, for allowing us to study families that they originally identified; K. Gratton and A. Schramm, for technical assistance; L. MacLaren, T. Mah, K. Elligott, M. L. Klimek, and Dr. W. Murphy, for assistance in contacting the families and in coordinating sample collection; and Drs. F. Biddle and M. Walter and Ms. Beth Duthie, for critical readings of the manuscript. This research was supported in part by funds from the RP Research Foundation (Canada), in the form of operating grants (to N.T.B.-H., W.G.P., and M.A.M.) and the Cook-McCann Studentship (to K.M.B.), and by operating grants from the I. D. Bebensee Foundation (to N.T.B.-H.), the Atkinson Charitable Foundation (to M.A.M.), the Canadian Genome Analysis and Technology Program (to N.T.B.-H.), and stipends from the Department of Ophthalmology, University of Alberta, and the Alberta Children's Hospital Foundation (to N.T.B-H.).
PY - 1998/4
Y1 - 1998/4
N2 - X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also he genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form of CSNB, to identify genetic-recombination events that would refine the location of the disease genes. Critical recombination events in the set of families with complete CSNB have localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. Critical recombination events in the set of families with incomplete CSNB have localized a disease gene to the region between DXS722 and DXS8023, in Xp11.23. Further analysis of the incomplete-CSNB families, by means of disease-associated-haplotype construction, identified 17 families, of apparent Mennonite ancestry, that share portions of an ancestral chromosome. Results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that two loci, one for complete (CSNB1) and one for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information.
AB - X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also he genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form of CSNB, to identify genetic-recombination events that would refine the location of the disease genes. Critical recombination events in the set of families with complete CSNB have localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. Critical recombination events in the set of families with incomplete CSNB have localized a disease gene to the region between DXS722 and DXS8023, in Xp11.23. Further analysis of the incomplete-CSNB families, by means of disease-associated-haplotype construction, identified 17 families, of apparent Mennonite ancestry, that share portions of an ancestral chromosome. Results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that two loci, one for complete (CSNB1) and one for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information.
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U2 - 10.1086/301781
DO - 10.1086/301781
M3 - Article
C2 - 9529339
AN - SCOPUS:0031901426
SN - 0002-9297
VL - 62
SP - 865
EP - 875
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -