Database : MEDLINE
Search on : Leber and Congenital and Amaurosis [Words]
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[PMID]: 28456785
[Au] Autor:Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
[Ad] Address:BGI-Shenzhen, Shenzhen, China.
[Ti] Title:Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
[So] Source:Oncotarget;8(21):35176-35183, 2017 May 23.
[Is] ISSN:1949-2553
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
High-Throughput Nucleotide Sequencing/methods
Leber Congenital Amaurosis/genetics
Mutation
Proteins/genetics
Retinitis Pigmentosa/genetics
[Mh] MeSH terms secundary: Adult
China
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Pedigree
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Proteins); 0 (RPGRIP1 protein, human)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.17052

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[PMID]: 29518907
[Au] Autor:Duijkers L; van den Born LI; Neidhardt J; Bax NM; Pierrache LHM; Klevering BJ; Collin RWJ; Garanto A
[Ad] Address:Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. lonneke.duijkers@radboudumc.nl.
[Ti] Title:Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
[So] Source:Int J Mol Sci;19(3), 2018 Mar 07.
[Is] ISSN:1422-0067
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with (encoding the Centrosomal protein of 290 kDa) being the most frequently mutated gene. The most recurrent LCA-causing mutation, c.2991+1655A>G, causes the insertion of a pseudoexon into a variable proportion of transcripts. We previously demonstrated that antisense oligonucleotides (AONs) have a high therapeutic potential for patients homozygously harbouring this mutation, although to date, it is unclear whether rescuing one single allele is enough to restore CEP290 function. Here, we assessed the AON efficacy at RNA, protein and cellular levels in samples that are compound heterozygous for this mutation, together with a protein-truncating mutation in . We demonstrate that AONs can efficiently restore splicing and increase protein levels. However, due to a high variability in ciliation among the patient-derived cell lines, the efficacy of the AONs was more difficult to assess at the cellular level. This observation points towards the importance of the severity of the second allele and possibly other genetic variants present in each individual. Overall, AONs seem to be a promising tool to treat -associated LCA, not only in homozygous but also in compound heterozygous carriers of the c.2991+1655A>G variant.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process

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[PMID]: 29305715
[Au] Autor:Kurata K; Hosono K; Hotta Y
[Ad] Address:Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka, 431-3192, Japan.
[Ti] Title:Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
[So] Source:Jpn J Ophthalmol;62(2):186-193, 2018 Mar.
[Is] ISSN:1613-2246
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:PURPOSE: To assess the long-term clinical course of 2 patients with PRPF31-related retinitis pigmentosa (RP). PATIENTS AND METHODS: We clinically examined 2 unrelated patients with RP and collected peripheral blood samples from them. Ophthalmic examinations, including best-corrected visual acuity measurements, Goldmann perimetry, full-field electroretinography, fundus autofluorescence imaging, and optical coherence tomography, were also performed. The visual acuity and visual field were continuously monitored. To identify the causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined via targeted next-generation sequencing. RESULTS: The clinical courses of both patients were similar. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although the patients' visual acuity was relatively preserved even into the fourth decade, the visual field area exhibited rapid deterioration in the mid-teens, with severe concentric constriction in the third decade. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients. CONCLUSIONS: To the best of our knowledge, few reports of long-term observations pertaining to patients with PRPF31-related RP have been published. The findings reported herein, especially those relating to the progressive degeneration of the visual field, may ultimately play a role in the provision of high-quality counseling for patients with this condition.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1007/s10384-017-0560-7

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[PMID]: 29219953
[Au] Autor:Vincent A; AlAli A; MacDonald H; VandenHoven C; Héon E
[Ad] Address:Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
[Ti] Title:Specific retinal phenotype in early IQCB1-related disease.
[So] Source:Eye (Lond);32(3):646-651, 2018 Mar.
[Is] ISSN:1476-5454
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 (Case-1; 9 years). Fundus evaluation showed whitish or silvery reflex outside the vascular arcades in all cases; the reflex was circumferential, irregular and covered at-least 6 clock hours at younger ages (3 cases; 1-4 years). The reflex was less conspicuous with increasing age (Case-1 (9 years) and Case-4 (20 years)). The peripheral retinal SD-OCT scans showed evidence of extensive deposition at the level of retinal pigment epithelium with complete absence of overlying photoreceptor outer segments and myoid zone. The ERG was non-detectable in all cases. All cases harbored biallelic nonsense (p.R364*, p. R455*) or frameshifting (p.M370Yfs*49, p.C253Afs*9) mutations in IQCB1. Case-1 additionally had developmental delay, hemi-hyperplasia, toe syndactyly, and kidney cysts.ConclusionIQCB1-related syndromic or non-syndromic Leber congenital amaurosis (LCA) carries unique retinal characteristics which helps differentiate IQCB1-retinopathy from other genetic forms of LCA in childhood.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1038/eye.2017.283

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[PMID]: 29506236
[Au] Autor:Kumaran N; Michaelides M; Smith AJ; Ali RR; Bainbridge JWB
[Ad] Address:NIHR Biomedical Research Centre for Ophthalmology at Moofields Eye Hospital and UCL, 162 City Road, London, EC1V 2PD, UK.
[Ti] Title:Retinal gene therapy.
[So] Source:Br Med Bull;, 2018 Mar 01.
[Is] ISSN:1471-8391
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Introduction: Inherited retinal diseases are the leading cause of sight impairment in people of working age in England and Wales, and the second commonest in childhood. Gene therapy offers the potential for benefit. Sources of data: Pubmed and clinicaltrials.gov. Areas of agreement: Gene therapy can improve vision in RPE65-associated Leber Congenital Amaurosis (RPE65-LCA). Potential benefit depends on efficient gene transfer and is limited by the extent of retinal degeneration. Areas of controversy: The magnitude of vision improvement from RPE65-LCA gene therapy is suboptimal, and its durability may be limited by progressive retinal degeneration. Growing points: The safety and potential benefit of gene therapy for inherited and acquired retinal diseases is being explored in a rapidly expanding number of trials. Areas timely for developing research: Developments in vector design and delivery will enable greater efficiency and safety of gene transfer. Optimization of trial design will accelerate reliable assessment of outcomes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher
[do] DOI:10.1093/bmb/ldy005

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[PMID]: 29193763
[Au] Autor:Imani S; Cheng J; Mobasher-Jannat A; Wei C; Fu S; Yang L; Jadidi K; Khosravi MH; Mohazzab-Torabi S; Shasaltaneh MD; Li Y; Chen R; Fu J
[Ad] Address:Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
[Ti] Title:Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
[So] Source:J Cell Mol Med;22(3):1733-1742, 2018 Mar.
[Is] ISSN:1582-4934
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)-interacting domain at the C-terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co-segregation  in this pedigree. This study provides compelling evidence that the c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.1111/jcmm.13454

  7 / 1080 MEDLINE  
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[PMID]: 29184169
[Au] Autor:Nash BM; Symes R; Goel H; Dinger ME; Bennetts B; Grigg JR; Jamieson RV
[Ad] Address:Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.
[Ti] Title:NMNAT1 variants cause cone and cone-rod dystrophy.
[So] Source:Eur J Hum Genet;26(3):428-433, 2018 Mar.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c.[271G > A] p.(Glu91Lys) and Case 2 compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). The detailed variant analysis, in combination with the observation of an associated macular atrophy phenotype, indicated that these variants were disease-causing. This report demonstrates that the variants in NMNAT1 may cause CD or CRD associated with macular atrophy. Genetic investigations of the patients with CD or CRD should include NMNAT1 in the genes examined.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1038/s41431-017-0029-7

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[PMID]: 28471114
[Au] Autor:Li Y; Pan Q; Gu YS
[Ad] Address:Department of Ophthalmology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China.
[Ti] Title:Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
[So] Source:J Zhejiang Univ Sci B;18(5):421-429, 2017 May.
[Is] ISSN:1862-1783
[Cp] Country of publication:China
[La] Language:eng
[Ab] Abstract:BACKGROUND: Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiology. This study is to identify gene variants responsible for LCA in a Chinese family using direct Sanger sequencing, with the help of phenotype-genotype correlations. METHODS: A Chinese family with six members including two individuals affected with LCA was studied. All patients underwent a complete ophthalmic examination. Based on phenotype-genotype correlation, direct Sanger sequencing was performed to identify the candidate gene on all family members and normal controls. Targeted next-generation sequencing was used to exclude other known LCA genes. RESULTS: By Sanger sequencing, we identified two novel missense variants in the retinol dehydrogenase 12 (RDH12) gene: a c.164C>A transversion predicting a p.T55K substitution, and a c.535C>G transversion predicting a p.H179D substitution. The two affected subjects carried both RDH12 variants, while their parents and offspring carried only one of heterozygous variants, showing complete cosegregation of the variants. The compound heterozygous variants were not present in 600 normal controls. Besides, the RDH12 variants were confirmed by targeted next-generation sequencing. CONCLUSIONS: The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA.
[Mh] MeSH terms primary: Alcohol Oxidoreductases/genetics
Genetic Predisposition to Disease/genetics
Leber Congenital Amaurosis/enzymology
Leber Congenital Amaurosis/genetics
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA/methods
[Mh] MeSH terms secundary: Adult
China
Female
Genotype
Humans
Infant
Leber Congenital Amaurosis/diagnosis
Male
Middle Aged
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 1.1.- (Alcohol Oxidoreductases); EC 1.1.1.105 (RDH12 protein, human)
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1631/jzus.B1600156

  9 / 1080 MEDLINE  
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[PMID]: 29198720
[Au] Autor:Luscan R; Mechaussier S; Paul A; Tian G; Gérard X; Defoort-Dellhemmes S; Loundon N; Audo I; Bonnin S; LeGargasson JF; Dumont J; Goudin N; Garfa-Traoré M; Bras M; Pouliet A; Bessières B; Boddaert N; Sahel JA; Lyonnet S; Kaplan J; Cowan NJ; Rozet JM; Marlin S; Perrault I
[Ad] Address:Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
[Ti] Title:Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
[So] Source:Am J Hum Genet;101(6):1006-1012, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in ß-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the ß-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αß-heterodimer, consistent with a role in maintaining MT stability. Functional analysis in cultured cells overexpressing FLAG-tagged wild-type or mutant TUBB4B as well as in primary skin-derived fibroblasts showed that the mutant TUBB4B is able to fold, form αß-heterodimers, and co-assemble into the endogenous MT lattice. However, the dynamics of growing MTs were consistently altered, showing that the mutations have a significant dampening impact on normal MT growth. Our findings provide a link between sensorineural disease and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.
[Mh] MeSH terms primary: Leber Congenital Amaurosis/genetics
Microtubules/genetics
Tubulin/genetics
[Mh] MeSH terms secundary: Adult
Binding Sites/genetics
Cells, Cultured
Child
DNA Mutational Analysis
Female
Humans
Male
Microtubules/metabolism
Middle Aged
Mutation, Missense/genetics
Photoreceptor Cells/metabolism
Tubulin/metabolism
Whole Exome Sequencing
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Tubulin)
[Em] Entry month:1801
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171205
[St] Status:MEDLINE

  10 / 1080 MEDLINE  
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[PMID]: 29450543
[Au] Autor:Minegishi Y; Nakaya N; Tomarev SI
[Ad] Address:Section of Retinal Ganglion Cell Biology, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
[Ti] Title:Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.
[So] Source:Invest Ophthalmol Vis Sci;59(2):995-1004, 2018 Feb 01.
[Is] ISSN:1552-5783
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Purpose: The compound heterozygous mutations in the ß subunit of chaperonin containing TCP-1 (CCT), encoded by CCT2, lead to the Leber congenital amaurosis (LCA). In this study, a cct2 mutant line of zebrafish was established to investigate the role of CCT2 mutations in LCA in vertebrates. Methods: A cct2 mutant zebrafish line was produced using the CRISPR-Cas9 system. Changes in the eyes of developing wild-type and mutant larvae were monitored using microscopy, immunostaining, TUNEL, and EdU assays. Phenotypic rescue of mutant phenotype was investigated by injection of CCT2 RNA into zebrafish embryos. Results: The cct2 mutation (L394H-7del) led to the synthesis of a mutated cctß protein with the L394H replacement and deletion of 7 amino acid residues (positions 395-401). The homozygous cct2-L394H-7del mutant exhibited a small eye phenotype at 2 days post fertilization (dpf) and was embryonically lethal after 5 dpf. In homozygous cct2-L394H-7del mutants, the retinal ganglion cell differentiation was attenuated, retinal cell cycle was affected, and the neural retinal cell death was significantly increased at 2 dpf compared with wild-type. Injection of RNA encoding wild-type human CCTß rescued the small eye phenotype, reduced retinal cell death, and restored the levels of CCTß protein and the major client protein Gß1 that were significantly reduced in the homozygous cct2-L394H-7del mutant compared with wild-type. These results indicate that cct2 plays an essential role in retinal development by regulating the cell cycle. Conclusions: The retinal pathology observed in the homozygous cct2-L394H-7del mutants resembles the retinal pathology of human LCA patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Data-Review
[do] DOI:10.1167/iovs.17-22919


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