Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Benjamin McClintonZelia CorradiMartin McKibbinDaan M PannemanSusanne RoosingErica G M BoonenManir AliChristopher Mark WatsonDavid H SteelFrans P M CremersChris F InglehearnRebekkah J Hitti-MalinCarmel ToomesPublished in: Genes (2023)
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to examine 57 UK macular dystrophy cases, achieving a high solve rate of 63.2% (36/57). Among 27 bi-allelic STGD1 cases, only three novel ABCA4 variants were identified, illustrating that the majority of ABCA4 variants in Caucasian STGD1 cases are currently known. We examined cases with ABCA4 -associated disease in detail, comparing our results with a previously reported variant grading system, and found this model to be accurate and clinically useful. In this study, we showed that ABCA4 -associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36).
Keyphrases
- optical coherence tomography
- diabetic retinopathy
- single molecule
- cataract surgery
- age related macular degeneration
- clinical evaluation
- magnetic resonance imaging
- copy number
- gene expression
- single cell
- small molecule
- living cells
- dna methylation
- mass spectrometry
- genome wide
- smoking cessation
- computed tomography
- nucleic acid
- photodynamic therapy