@article{1824715cf28542a8b800b82406fba1c6,
title = "A novel locus for Leber congenital amaurosis on chromosome 14q24",
abstract = "Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide search for identity-by-descent on a consanguineous Saudi Arabian LCA family. A shift to homozygosity was observed in the affected DNA pool compared with the control pool at linked markers D14S606 and D14S610. Genotyping of individual DNA samples from the entire pedigree for marker D14S74, closely linked to these loci, and several flanking markers confirmed linkage with a Z(MAX) = 13.29 at θ = 0.0. These data assign a third locus (LCA3) for LCA to chromosome 14q24. This locus and the previously identified loci are excluded for other Saudi Arabian pedigrees, both confirming that this clinical disorder is genetically heterogeneous and that additional LCA genes remain to be identified.",
author = "Stockton, {David W.} and Lewis, {Richard Alan} and Abboud, {Emad B.} and Ali Al-Rajhi and Monzer Jabak and Anderson, {Kent L.} and Lupski, {James R.}",
note = "Funding Information: Acknowledgements Sincere appreciation is extended to the participating families for their willing and continuing cooperation in these investigations. The authors gratefully acknowledge the attending physicians, the Director of Research, Zeynel A. Karcioglu, M.D., the former Director of Research, John C. Cavender, M.D., and the staff of the Research Department at the King Khaled Eye Specialist Hospital (KKESH), Riyadh, Saudi Arabia, for their identification and accession of these families. This work was supported in part by the Research Department at KKESH, and by grants from the National Eye Institute Mentored Clinical Scientist Development Award (K08 EY00375-01), the Knights Templar Eye Foundation, the Daland Fund of the American Philosophical Society (D.W.S.), the Foundation Fighting Blindness, Baltimore, Md., and the National Eye Institute (R01 EY11780-02) (J.R.L. and R.A.L.). R.A.L. is a Senior Scientific Investigator of Research to Prevent Blindness, New York, N.Y.",
year = "1998",
doi = "10.1007/s004390050825",
language = "English (US)",
volume = "103",
pages = "328--333",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Science and Business Media Deutschland GmbH",
number = "3",
}