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The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
journal contribution
posted on 2023-05-16, 17:17 authored by McKay, JD, Patterson, B, Jamie CraigJamie Craig, Russell-Eggitt, E, Wirth, MG, Kathryn BurdonKathryn Burdon, Alexander HewittAlexander Hewitt, Cohn, AC, Kerdraon, Y, David MackeyDavid MackeyAims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1 ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.
History
Publication title
British Journal of OphthalmologyVolume
89Issue
7Pagination
831-834ISSN
0007-1161Department/School
Menzies Institute for Medical ResearchPublisher
B M J PUBLISHING GROUPPlace of publication
EnglandRepository Status
- Restricted