Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

• Main Authors: Eichers, ER, Green, JS, Stockton, DW, Jackman, CS, Whelan, J, McNamara, JA, Johnson, GJ, Lupski, JR, Katsanis, N
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: 2002
• Subjects: Adolescent; Adult; Age of Onset; Aged; Alternative Splicing; Base Sequence; Blindness; Carrier Proteins; Child; Preschool; Chromosome Mapping; DNA Mutational Analysis; Dark Adaptation; Female; Haplotypes; Humans; Lod Score; Male; Middle Aged; Mutation; Newfoundland and Labrador; Pedigree; Phenotype; RNA Splice Sites; Retinitis Pigmentosa; Visual Fields; Long Arm; Newfoundland
• Online Access: http://discovery.ucl.ac.uk/58634/

Some isolated populations exhibit an increased prevalence of rare recessive diseases. The island of Newfoundland is a characteristic geographic isolate, settled by a small number of families primarily during the late 1700s and early 1800s. During our studies of this population, we identified a group...