Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

doi:10.1007/s11033-025-11427-w

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Article

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Molecular biology reports - 19 Jan 2026

Saba Neelam, Kanwal Ambreen, Irshad Saba

Abstract excerpt

BACKGROUND: Juvenile cataract is characterized by the blurredness in eye lens which develops typically before the age of 18 years. Objective of the study was to delineate the underlying causative genetic defect for autosomal recessive juvenile cataract (ARJC) in an affected consanguineous multiplex, multigenerational Pakistani consanguineous family. METHODS AND RESULTS: Whole-exome sequencing (WES) in an affected...

Topics

Humans
Cataract
Pakistan
Consanguinity
Pedigree
Female
Male
Sequence Deletion
Genes, Recessive
Microfilament Proteins
Exome Sequencing
Exons
Eye Proteins
Adolescent
Mutation
Homozygote
Child
Intermediate Filament Proteins

Source

Open in PubMed

Identifiers

PMID: 41553577
DOI: 10.1007/s11033-025-11427-w

Genes

BFSP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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