Article
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Ophthalmic genetics - 1 Oct 2019
Kimchi Adva, Meiner Vardiella, Silverstein Shira, Macarov Michal, Mor-Shaked Hagar, Blumenfeld Anat, Audo Isabelle, Zeitz Christina, Mechoulam Hadas, Banin Eyal, Sharon Dror, Yahalom Claudia
Abstract excerpt
Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression in females was reported in some families. We report here three non-related Ashkenazi Jewish families originating in Eastern Europe, that included males and a many affected females, initially diagnosed with variable retinal phenotypes.Materials and...
Topics
- Adult
- Aged
- Arthritis
- Calcium Channels, L-Type
- Deafness
- Eye Diseases, Hereditary
- Female
- Follow-Up Studies
- Founder Effect
- Genetic Diseases, X-Linked