A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode
Investigative Ophthalmology & Visual Science2011Vol. 52(8), pp. 5332–5332
Citations Over TimeTop 13% of 2011 papers
Hanna Bitner, Liliana Mizrahi‐Meissonnier, Gabriel Griefner, Inbar Erdinest, Dror Sharon, Eyal Banin
Abstract
We show here that the typical vitelliform phenotype of Best disease, usually transmitted in an autosomal dominant fashion, can be inherited as an autosomal recessive disease due to homozygosity for a frameshift mutation.
Related Papers
- → A novel mutation in SACS gene in a family from southern Italy(2004)79 cited
- → A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family(1992)92 cited
- → Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report(2016)14 cited
- Steady State Pattern Electroretinography (ssPERG) in Age-Related Macular Degeneration (AMD) compared to controls.(2014)
- A novel mutation of EXT gene in a pedigree with hereditary multiple exostoses(2009)