Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Raheela Nadeem; Firoz Kabir; Jiali Li; Libe Gradstein; Xiaodong Jiao; Bushra Rauf; Muhammad Asif Naeem; Muhammad Zaman Assir; Sheikh Riazuddin; Radha Ayyagari; J Fielding Hejtmancik; S Amer Riazuddin

doi:10.1038/s41439-020-0100-8

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Hum Genome Var. 2020 May 12:7:14. doi: 10.1038/s41439-020-0100-8. eCollection 2020.

Authors

Affiliations

¹ 1National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700 Pakistan.
² 2The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.
³ 3Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 USA.
⁴ 4Department of Ophthalmology, Zhujiang Hospital, Southern Medical University, Guangzhou, 515282 China.
⁵ Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550 Pakistan.
⁶ 6Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093 USA.

^# Contributed equally.

Abstract

This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of CERKL in one family and a novel four-base pair deletion in exon 4 of RP1, c.delAGAA4218_4221, leading to premature protein termination in the second family. Here, we report two RP-causing mutations extending the genetic heterogeneity of the disease.

Keywords: Genetic linkage study; Genetic markers.