Ophthalmic Genetics最新文献_第5页

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis. 杂合子 Pyrin (MEFV) E148Q 等位基因携带者表明土耳其人患青光眼的风险降低：一项前瞻性临床分析。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-14 DOI: 10.1080/13816810.2024.2324362

Orkun Muhsinoglu, Ibrahim Akalin, Remzi Karadag, Sarenur Yilmaz, Huseyin Bayramlar, James D Nicholson

{"title":"Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.","authors":"Orkun Muhsinoglu, Ibrahim Akalin, Remzi Karadag, Sarenur Yilmaz, Huseyin Bayramlar, James D Nicholson","doi":"10.1080/13816810.2024.2324362","DOIUrl":"10.1080/13816810.2024.2324362","url":null,"abstract":"Purpose: The MEFV gene encodes pyrin, a protein linked to increased severity of symptoms in Familial Mediterranean Fever (FMF). We consider that inflammation due to MEFV variants would increase eye inflammation and damage aqueous humor regulation. The present study is the first analysis investigating a MEFV (E148Q) variant as a marker protecting from glaucoma.Methods: In this prospective clinical analyze, we performed detailed gene sequencing focusing on 22 specific regions of the pyrin (MEFV) gene. The study involved two distinct groups: individuals diagnosed with glaucoma (n = 200) and control subjects without glaucoma (n = 100). Both groups were carefully selected to exclude individuals with symptoms or a previous diagnosis of Familial Mediterranean Fever (FMF). The diagnosis of glaucoma for each participant was rigorously established through comprehensive direct ophthalmic examinations.Results: A significant odds ratio for protection against glaucoma was found in carriers of the subclinical E148Q allele (OR:2.22; 95%CI: 1.098-4.485). No significant differences were found for other variants. One mutant E148Q-allele could decrease the probability of glaucoma development by approximately 68,9%. We observed no differences in the genotype frequency between glaucoma and healthy for the other MEFV gene variants.Conclusion: The pyrin variant of the MEFV gene resulting in a subclinical phenotype appears to reduce the incidence of glaucoma, and heterozygous pyrin (MEFV) E148Q allele carriers confer protection against glaucoma. It is important to consider the limitations arising from the relatively small number of studies conducted on this topic.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140120229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS. 与老年性黄斑变性相关的遗传因素调节艾滋病患者的血浆炎症生物标志物水平。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-25 DOI: 10.1080/13816810.2024.2330380

Efe Sezgin, Michael F Schneider, Peter W Hunt, Gabriele Beck-Engeser, Gabriele C Ambayac, Douglas A Jabs

{"title":"Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS.","authors":"Efe Sezgin, Michael F Schneider, Peter W Hunt, Gabriele Beck-Engeser, Gabriele C Ambayac, Douglas A Jabs","doi":"10.1080/13816810.2024.2330380","DOIUrl":"10.1080/13816810.2024.2330380","url":null,"abstract":"Introduction: Patients with the acquired immunodeficiency syndrome (AIDS) have an increased prevalence and incidence of intermediate-stage age-related macular degeneration (AMD). Several elevated plasma inflammatory biomarkers are associated with increased incidence of intermediate-stage AMD in this population. We evaluated the association between AMD risk alleles and plasma inflammatory biomarker levels in persons with AIDS.Materials and methods: Cryopreserved plasma specimens of 229 non-Hispanic White and 252 non-Hispanic blacks from the Longitudinal Study of the Ocular Complications of AIDS cohort were assayed for plasma levels of soluble tumor necrosis factor receptor (sTNFR) 2, interleukin (IL)-18, C × 3motif chemokine ligand 1 (CX3CL1), C-reactive protein (CRP), and soluble CD14 (sCD14). Genotyping included AMD-associated variants rs10801553 and rs800292 for complement factor H (CFH) rs9332739 and rs547154 for complement factor 2 (C2), rs2230199 for C3, rs2285714 for CFI, and rs3732379 and rs3732378 for C × 3motif chemokine receptor 1 (CX3CR1).Results: In Whites, AMD low-risk CX3CR1 variants (V249I and T280M) were associated with reduced plasma levels of IL-18. In Blacks, AMD low-risk C3 R102G and low-risk CX3CR1 T280M variants were associated with reduced CRP levels.Conclusions: Genetic variants in AMD-associated immune genes may influence AMD-associated systemic plasma inflammatory biomarker levels in patients with AIDS.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type. 年龄小于 45 岁的同型 MTHFR C667T 携带者患视网膜中央静脉闭塞症的时间比野生型早 5 年。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-02-23 DOI: 10.1080/13816810.2024.2318612

Paul Rj Ames, Alessia Arcaro, Giovanna D'Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione, Fabrizio Gentile

{"title":"Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type.","authors":"Paul Rj Ames, Alessia Arcaro, Giovanna D'Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione, Fabrizio Gentile","doi":"10.1080/13816810.2024.2318612","DOIUrl":"10.1080/13816810.2024.2318612","url":null,"abstract":"Purpose: To assess age at 1st central retinal vein occlusion (CRVO) in carriers ≤ 45 years old of the methylenetetrahydrofolate reductase (MTHFR) C667T genotype compared to heterozygous and wild type, and to identify predictors of age at CRVO.Methods: Retrospective cohort study consisting of 18 MTHFR TT, 23 MTHFR TC and 28 MTHFR CC participants; information regarding age, sex, age at CRVO, history of dyslipidaemia, hypertension, smoking and plasma HC measured by immunoassay were collected.Results: Age at CRVO was lower in MTHFR TT than MTHFR TC and CC (32 ± 6 vs 38 ± 5 vs 37 ± 6 years, respectively, p = 0.005); plasma HC was higher in MTHFR TT than in the other genotypes [14.4 (10.8, 19.6) vs 10.4 ((8.6,12.5) vs 8.5 ((7.5,9.8) μmol/l, p = 0.0002). Smoking (cigarettes/day) independently predicted age at CRVO (p = 0.039) and plasma HC (p = 0.005); smoking status (yes/no) predicted ischemic CRVO (p = 0.01) that was more common in the MTHFR TT group (p = 0.006).Conclusions: Carriers of the MTHFR TT genotype ≤ 45 years old develop their 1st CRVO on average 5 years earlier than the MTHFR CC genotype; smoking contributes to the prematurity and severity of CRVO in MTHFR TT carriers.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139932343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients. 与 MFRP 基因有关的视网膜受累的后小眼症：10 例巴西患者的报告。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-04-01 DOI: 10.1080/13816810.2024.2322650

Rebeca A S Amaral, Olivia A Zin, Remo T Moraes, Fernanda B O Porto, Pedro C Carricondo, Sergio L G Pimentel, Bernardo P Kestelman, Sung E S Watanabe, Juliana M F Sallum

{"title":"Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.","authors":"Rebeca A S Amaral, Olivia A Zin, Remo T Moraes, Fernanda B O Porto, Pedro C Carricondo, Sergio L G Pimentel, Bernardo P Kestelman, Sung E S Watanabe, Juliana M F Sallum","doi":"10.1080/13816810.2024.2322650","DOIUrl":"10.1080/13816810.2024.2322650","url":null,"abstract":"Background: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings.Methods: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders.Results: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light. All were hyperopes (+4,25 to + 17,50) with a short axial length (14,4 mm to 18 mm). Common posterior segment features, though not present in all, were optic disc drusen (5/10), foveoschisis (5/10) and retinal pigmentary changes (8/10). Isolated patients presented with macular atrophy, serous retinal detachment, and chorioretinal folds. The most common variant in MFRP found in our patients was a deletion in exon 5 (c.498delC; p.Asn267Thrfs *25), present in all except 2 patients. Other variants found were c.523C>T (p.Gln175*), c.298delG (p.Ala100Argfs *37), c.666del (p.Thr223Argfs *83) and the novel variant c.257C>A (p.Ala86Asp).Conclusions: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140336372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The landscape of clinical trials research in inherited ophthalmic disease. 遗传性眼科疾病的临床试验研究现状。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-07-24 DOI: 10.1080/13816810.2024.2378013

Vincent Ng, Cheuk Ying Li, Paul Cornes, Marcela Votruba

{"title":"The landscape of clinical trials research in inherited ophthalmic disease.","authors":"Vincent Ng, Cheuk Ying Li, Paul Cornes, Marcela Votruba","doi":"10.1080/13816810.2024.2378013","DOIUrl":"https://doi.org/10.1080/13816810.2024.2378013","url":null,"abstract":"Objective: To describe the current status of clinical trials of genetic eye diseases with identified molecular targets for future areas of research.Method: Data analysis of the clinical trials database on clinicaltrials.gov with keywords for eight common, genetically tractable inherited eye diseases and their common molecular targets was performed during the period from 20 March 2021 to 31 December 2023.Results: Two hundred and eighty-eight trials involving our keywords have been identified, excluding 25 (8.7%) trials which were unknown (verification expired with no update), 14 (4.9%) trials which were terminated early and 6(2.1%) trials which were withdrawn. In total there were 243 (84.4%) trials included. Out of the 243 trials, 120 trials were completed, 76 trials were active and still open to recruitment and 44 trials were active without any more recruitment on the way. There were only 32 (13.2%) trials with posted results.Conclusions: A low percentage of results were posted for completed trials. However, current and future clinical trials in the genetic eye diseases with molecular targets identified, have a promising future. The results of these trials will enhance and allow a better understanding of the potential to develop treatments for these conditions.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma. 视网膜母细胞瘤玻璃体种子的单细胞体细胞拷贝数改变图谱。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-07-17 DOI: 10.1080/13816810.2024.2374886

Shreya Sirivolu, Michael J Schmidt, Rishvanth K Prabakar, Peter Kuhn, James Hicks, Jesse L Berry, Liya Xu

{"title":"Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma.","authors":"Shreya Sirivolu, Michael J Schmidt, Rishvanth K Prabakar, Peter Kuhn, James Hicks, Jesse L Berry, Liya Xu","doi":"10.1080/13816810.2024.2374886","DOIUrl":"https://doi.org/10.1080/13816810.2024.2374886","url":null,"abstract":"Background: Heterogeneity can impact biomarker identification. Thus, we investigated the somatic copy number alterations (SCNAs) of individual tumor cells in the vitreous humor of a retinoblastoma patient using single-cell whole-genome profiling and explored the genomic concordance among vitreous and aqueous humor, vitreous seeds, and tumor.Methods: Aqueous humor (AH), vitreous humor (VH), and tumor biopsy were obtained from an enucleated globe with retinoblastoma and vitreous seeding. Micromanipulation was used to manually isolate 39 live single tumor cells from vitreous seeds harvested from the VH. The SCNA profiles of these individual cells were generated via whole-genome sequencing and analyzed alongside profiles from the tumor mass and cell-free DNA (cfDNA) from AH and VH.Results: Heatmap of VH single-cell SCNA profiles demonstrates heterogeneity among individual vitreous seeds with one clearly dominant subclone (23 of 37 cells). The SCNA profiles from the cells in this subclone demonstrate an average concordance of 98% with cfDNA profiles from acellular AH and VH and with the tumor profile.Conclusions: Our findings reveal some heterogeneity among single-cell SCNA profiles in individual VH seeds. Despite this heterogeneity, the dominant vitreous subclone exhibits extremely (>98%) high concordance with the SCNA profile from tumor and AH, suggesting AH cfDNA is representative of the dominant genomic subclone. This may facilitate tumoral biomarker identification via the AH. This preliminary work supports the potential of applying single-cell technology to VH seeds in retinoblastoma as a platform to study tumor subclones, which may provide insight into the genomic complexity of disease.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia. MAB21L1 的单倍错义变体会导致一种新型常染色体显性小眼症。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-07-17 DOI: 10.1080/13816810.2024.2378029

Jinli Li, Qin Wang, Aijun Yang, Junyu Zhang

{"title":"Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.","authors":"Jinli Li, Qin Wang, Aijun Yang, Junyu Zhang","doi":"10.1080/13816810.2024.2378029","DOIUrl":"https://doi.org/10.1080/13816810.2024.2378029","url":null,"abstract":"Purpose: The biallelic variant of MAB21L1 has previously been documented in conjunction with the autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG). The purpose of this study was to investigate the gene-disease association of MAB21L1 and the newly discovered autosomal dominant (AD) microphthalmia.Methods: We report the presence of an exceptionally rare missense variant in a single allele of the Arg51 codon of MAB21L1 among four individuals from a single family diagnosed with microphthalmia, which suggesting an autosomal dominant inheritance pattern. Subsequently, based on comprehensive literature review, we identiﬁed another 13 families that have reported cases of autosomal dominant microphthalmos.Results: Genotype-phenotype analysis revealed that patients with a single allele missense variant in MAB21L1 exhibited solely eye abnormalities. This starkly diverged from the clinical presentation of COFG, typiﬁed by the concurrent occurrence of ocular and extraocular symptoms stemming from the biallelic variant in MAB21L1. Our ﬁndings revealed that the heterozygous pathogenic variant in MAB21L1 resulted in the emergence of autosomal dominant microphthalmia. By combining these genetic and experimental evidence, the clinical validity of MAB21L1 and the emerging autosomal dominant microphthalmia can be regarded as moderate.Conclusion: In summary, there is suﬃcient convincing evidence to prove that MAB21L1 is a novel pathogenic gene responsible for autosomal dominant microphthalmia, thus oﬀering valuable insights for precise diagnosis and targeted therapeutic interventions in cases of microphthalmia.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Usher syndrome in the United Arab Emirates. 阿拉伯联合酋长国的乌谢尔综合征。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-07-17 DOI: 10.1080/13816810.2024.2374866

Arif O Khan

{"title":"Usher syndrome in the United Arab Emirates.","authors":"Arif O Khan","doi":"10.1080/13816810.2024.2374866","DOIUrl":"https://doi.org/10.1080/13816810.2024.2374866","url":null,"abstract":"Purpose: Usher syndrome, a common form of syndromic inherited retinal dystrophy in the Arabian Gulf, has not been molecularly defined in the United Arab Emirates. The current study addresses this gap in knowledge.Methods: A retrospective case series of Emirati patients referred to the Ocular Genetics Clinic of Cleveland Clinic Abu Dhabi who (1) were clinically diagnosed with Usher syndrome and underwent genetic testing (whole exome sequencing, 2019 to 2023, inclusive) and (2) were identified to have biallelic pathogenic variants in Usher syndrome genes during the same time period.Results: Ten probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants. Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause. Regarding the three additional probands identified with homozygous USH2A variants, all three had retinitis pigmentosa only rather than Usher syndrome and all three had different variants.Discussion: Clinically diagnosed Usher syndrome was genetically heterogenous without evidence for founder effect in this Emirati cohort. MYO7A was the most common associated gene. Dual diagnosis rather than single cause can mimic Usher syndrome. Homozygous USH2A variants were not identified as a cause for Usher syndrome in this cohort but were a recurrent cause for retinitis pigmentosa without hearing impairment and without founder effect.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel frameshift variant in BCOR causes congenital nuclear cataract. BCOR 中的一种新型框架移位变体会导致先天性核性白内障。

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-07-03 DOI: 10.1080/13816810.2024.2373248

Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides

{"title":"A novel frameshift variant in BCOR causes congenital nuclear cataract.","authors":"Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides","doi":"10.1080/13816810.2024.2373248","DOIUrl":"https://doi.org/10.1080/13816810.2024.2373248","url":null,"abstract":"Background: BCL6 co-repressor (BCOR) gene variants are involved in oculofaciocardiodental (OFCD) syndrome, acute myeloid leukaemia, renal tumours, and photoreceptor degenerative diseases. Here, we describe a British family with a pathogenic heterozygous variant in the BCOR gene causing congenital nuclear cataract.Methods: Whole-exome sequencing was conducted on an individual affected by X-linked dominant congenital cataract in a three-generation family to establish the underlying genetic basis. Bioinformatics analysis confirmed the variants with damaging pathogenicity scores.Results: A novel likely pathogenic frameshift variant BCOR NM_001123385.1: c.3621del; p.Lys1207AsnfsTer31, was identified and found to co-segregate with the disease in this family.Conclusions: This is apparently the first report of a variant in BCOR causing X-linked dominant congenital cataract which is potentially isolated or presenting with a remarkably mild systemic phenotype. Our findings extend the genetic basis for congenital cataract and add to the phenotypic spectrum of BCOR variants.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

William Gregory (Bill) Pearce MD, FRCS(C). William Gregory (Bill) Pearce MD, FRCS(C).

IF 1.2 4区医学

Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-02-14 DOI: 10.1080/13816810.2024.2313508

Ian MacDonald

引用次数: 0