Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy
- PMID: 23362850
- DOI: 10.3109/13816810.2013.763995
Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy
Abstract
Purpose: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family.
Materials and methods: Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array followed by sequencing.
Results: The patients showed variable phenotypes ranging from Leber Congenital Amaurosis (LCA) to progressive forms of Retinitis Pigmentosa (RP). A 46.1 Mb chromosomal region at chromosome 1q23.3-32.2 was identified by homozygosity mapping. This region contained the Crumbs homologue-1, CRB1, a gene responsible for recessive retinal dystrophies. CRB1 is required for photoreceptor morphogenesis, and it has been associated with RP and LCA. Sequencing of CRB1 revealed two mutations: a novel deletion in exon 6 (c.1772_1775delGCAT; p.C591Sfs*28) and a missense mutation in exon 7 (c.2234C > T; p.T745M).
Conclusion: We report a novel CRB1 mutation in inherited RD in a Lebanese family, and confirm the considerable phenotype heterogeneity that may exist between individuals sharing the same mutations.
Similar articles
-
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840. Ophthalmic Genet. 2006. PMID: 16543197
-
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419. Invest Ophthalmol Vis Sci. 2013. PMID: 23449718
-
Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.Int J Mol Med. 2014 Apr;33(4):913-8. doi: 10.3892/ijmm.2014.1655. Epub 2014 Feb 12. Int J Mol Med. 2014. PMID: 24535598
-
CRB1 mutations in inherited retinal dystrophies.Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22065545 Free PMC article. Review.
-
CRB1 mutation spectrum in inherited retinal dystrophies.Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
Cited by
-
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.BMC Med Genomics. 2022 Sep 17;15(1):197. doi: 10.1186/s12920-022-01356-z. BMC Med Genomics. 2022. PMID: 36115989 Free PMC article. Review.
-
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
-
The genetics of rod-cone dystrophy in Arab countries: a systematic review.Eur J Hum Genet. 2021 Jun;29(6):897-910. doi: 10.1038/s41431-020-00754-0. Epub 2020 Nov 13. Eur J Hum Genet. 2021. PMID: 33188265 Free PMC article.
-
Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.Asia Pac J Ophthalmol (Phila). 2020 May-Jun;9(3):159-179. doi: 10.1097/APO.0000000000000290. Asia Pac J Ophthalmol (Phila). 2020. PMID: 32511120 Free PMC article. Review.
-
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum.Iran Biomed J. 2019 Sep;23(5):362-8. doi: 10.29252/.23.5.362. Epub 2019 May 19. Iran Biomed J. 2019. PMID: 31103025 Free PMC article. Review.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous