Extending the spectrum of CLRN1 ‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

ConclusionOur findings extend the spectrum ofCLRN1‐ andABCA4‐associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function.

Source: Molecular Genetics & Genomic Medicine - January 21, 2020 Category: Genetics & Stem Cells Authors: Mohammed Abu ‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab Tags: ORIGINAL ARTICLE Source Type: research