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Article

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.

Molecular vision - 1 Jan 2022

El-Asrag Mohammed E, Corton Marta, McKibbin Martin, Avila-Fernandez Almudena, Mohamed Moin D, Blanco-Kelly Fiona, Toomes Carmel, Inglehearn Chris F, Ayuso Carmen, Ali Manir

Abstract excerpt

Purpose: To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper (NRL). 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...

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PMID: 35693422
PMCID: PMC9122474

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