Novel homozygous mutations in the transcription factor <i>NRL</i> cause non-syndromic retinitis pigmentosa.
Mohammed E. El‐Asrag, Marta Cortón, Martin McKibbin, Almudena Ávila‐Fernández, Moin Mohamed, Fiona Blanco‐Kelly, Carmel Toomes, Chris F. Inglehearn, Carmen Ayuso, Manir Ali
Abstract
Purpose: . Methods: Exome sequencing was performed in one affected family member. Microsatellite genotyping was used for haplotype analysis. PCR and Sanger sequencing were used to confirm mutations in and screen other family members where they were available. The SMART tool for domain prediction helped us build the protein schematic diagram. Results: , c.544C>T, p.Gln182*. The variants were either rare or absent in the gnomAD database. Conclusions: causing recessive and dominant diseases.
Topics & Concepts
GeneticsExome sequencingSanger sequencingBiologyRetinitis pigmentosaNonsense mutationExomeDisease gene identificationHaplotypeMutationGeneGenotypeMissense mutationRetinal Development and DisordersPhotoreceptor and optogenetics researchAdvanced biosensing and bioanalysis techniques