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Article

Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family.

Annals of medicine - 1 Dec 2025

Rashid Abdur, Munir Asad, Zahid Muhammad, Ullah Mukhtar, Rehman Atta Ur

Abstract excerpt

BACKGROUND: Mutations in RP1 gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families. PATIENTS: A two-generation consanguineous Pakistani family underwent both clinical and genetic analyses. Clinical examinations included visual acuity test, visual field, fundoscopy, and ocular coherence tomography (OCT). Whole exome sequencing (WES) was performed on the proband's DNA, and...

Read the complete abstract on PubMed

Topics

Humans
Male
Pakistan
Retinitis Pigmentosa
Eye Proteins
Female
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Exome Sequencing

RNA Splice Sites

Homozygote

Adult

Mutation

Visual Acuity

Consanguinity

Genes, Recessive

Microtubule-Associated Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40029043
DOI: 10.1080/07853890.2025.2470953
PMCID: PMC11878163

Genes

RP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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