Items for "de novo mutation"

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy

Background: Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, Retinitis pigmentosa and probably age-related macular degeneration.

Methods: Screening for mutations in the ABCA4 gene was performed using denaturing high-performance liquid chromatography and direct sequencing.

Results: We describe the identification of a new de novo 44-bp deletion in an Italian patient affected by cone-rod dystrophy...

Keywords: ABCA4, cone-rod dystrophy, denaturing HPLC (DHPLC), de novo mutation