Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

Mohammad Ghofrani, Mahin Yahyaei, Han G. Brunner, Frans P.M. Cremers, Morteza Movasat, Muhammad Imran Khan*, Mohammad Keramatipour*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify the underlying mutations in three Iranian families.

Method: Having employed homozygosity mapping and Sanger sequencing, we identified the underlying mutations in the crumbs homologue 1 gene. The CRB1 protein is a part of a macromolecular complex with a vital role in retinal cell polarity, morphogenesis, and maintenance.

Results: We identified a novel homozygous variant (c.1053_1061del; p.Gly352_Cys354del) in one family, a combination of a novel (c.2086T>C; p.Cys696Arg) and a known variant (c.2234C>T, p.Thr745Met) in another family and a homozygous novel variant (c.3090T>A; p.Asn1030Lys) in a third family.

Conclusion: This study shows that mutations in CRB1 are relatively common in Iranian non-syndromic IRD patients.

Original languageEnglish
Pages (from-to)294-302
Number of pages9
JournalIranian Biomedical Journal
Volume21
Issue number5
DOIs
Publication statusPublished - Sep 2017

Keywords

  • Journal Article

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