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

ABSTRACT:

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 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

For family MM1 of Pakistani origin, whole-exome sequencing and microsatellite genotyping revealed homozygosity on chromosome 14 and identified a homozygous stop-loss mutation in NRL, NM_006177.5

SUBMITTER: El-Asrag ME 

PROVIDER: S-EPMC9122474 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature