CRB1 mutations in inherited retinal dystrophies
- PMID: 22065545
- PMCID: PMC3293109
- DOI: 10.1002/humu.21653
CRB1 mutations in inherited retinal dystrophies
Abstract
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.
© 2011 Wiley Periodicals, Inc.
Figures
![Figure 1](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/3293109/bin/nihms-336583-f0001.gif)
![Figure 2](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/3293109/bin/nihms-336583-f0002.gif)
![Figure 3](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/3293109/bin/nihms-336583-f0003.gif)
Similar articles
-
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.Sci Rep. 2017 Aug 17;7(1):8654. doi: 10.1038/s41598-017-09035-1. Sci Rep. 2017. PMID: 28819299 Free PMC article.
-
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.
-
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20. Orphanet J Rare Dis. 2013. PMID: 23379534 Free PMC article.
-
CRB1: one gene, many phenotypes.Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Semin Ophthalmol. 2013. PMID: 24138049 Review.
-
Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.BMC Res Notes. 2016 Feb 13;9:91. doi: 10.1186/s13104-016-1917-6. BMC Res Notes. 2016. PMID: 26872607 Free PMC article.
Cited by
-
In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone-Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A.Genes (Basel). 2024 May 15;15(5):625. doi: 10.3390/genes15050625. Genes (Basel). 2024. PMID: 38790254 Free PMC article.
-
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.BMC Ophthalmol. 2024 Apr 15;24(1):167. doi: 10.1186/s12886-024-03419-4. BMC Ophthalmol. 2024. PMID: 38622537 Free PMC article.
-
Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.Life Sci Alliance. 2024 Apr 3;7(6):e202302440. doi: 10.26508/lsa.202302440. Print 2024 Jun. Life Sci Alliance. 2024. PMID: 38570189 Free PMC article.
-
Cell-cell interaction in the pathogenesis of inherited retinal diseases.Front Cell Dev Biol. 2024 Mar 4;12:1332944. doi: 10.3389/fcell.2024.1332944. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38500685 Free PMC article. Review.
-
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):11. doi: 10.1167/iovs.65.3.11. Invest Ophthalmol Vis Sci. 2024. PMID: 38466290 Free PMC article.
References
-
- Audo I, Sahel JA, Mohand-Said S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C. EYS is a major gene for rod-cone dystrophies in France. Hum Mutat. 2010;31:E1406–35. - PubMed
-
- Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, Qamar R, den Hollander AI. Identification of novel mutations in pakistani families with autosomal recessive retinitis pigmentosa. Arch Ophthalmol. 2011;129:1377–8. - PubMed
-
- Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T. Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. Am J Med Genet A. 2009;149A:650–6. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Research Materials