Article
Genetics & Heredity
Dejian Yuan, Tizhen Yan, Shiqiang Luo, Jun Huang, Jianqiang Tan, Jianping Zhang, Victor Wei Zhang, Yueyuan Lan, Taobo Hu, Jing Guo, Mingwei Huang, Dingyuan Zeng
Summary: Using exome sequencing, we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient, expanding the variant spectrum in ARR3 and providing additional information for genetic counseling, prenatal testing, and diagnosis. Additionally, we characterized the nonsense-mediated decay of the ARR3 mutant mRNA and discussed the possible underlying pathogenic mechanisms.
FRONTIERS IN GENETICS
(2021)
Article
Ophthalmology
Yi Jiang, Lin Zhou, Yingwei Wang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Junwen Wang, Zhen Yi, Wenmin Sun, Xiaodong Jiao, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang
Summary: The study aims to elucidate the clinical and genetic features of LOXL3-associated MYP28. Through exome sequencing, LOXL3 biallelic variants were exclusively identified in 9 families with eoHM. Patients with biallelic LOXL3 variants showed early-onset high myopia, slow progression, and specific fundus changes.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Dentistry, Oral Surgery & Medicine
Ruiqing Sun, Shuangying Li, Bin Xia, Junxia Zhu
Summary: This study identified a novel frameshift variant of PAX9 causing nonsyndromic oligodontia in a Chinese family. The variant is pathogenic and may affect protein stability or folding. Functional studies demonstrated reduced transcription activity and protein production. These findings provide new insights into the role of PAX9 frameshift variants and expand the pathogenic spectrum of PAX9 variants.
Article
Genetics & Heredity
Shiqin Yuan, Xiaoyu Huang, Shuang Zhang, Shangying Yang, Xue Rui, Xiaolong Qi, Xuhui Wang, Yali Zheng, Weining Rong, Xunlun Sheng
Summary: This study aims to explore the association between clinical presentation and genotype in a Donnai-Barrow syndrome (DBS) patient. The patient, initially diagnosed with early-onset high myopia (eoHM) from a healthy Chinese family, was tested using whole exome sequencing and the results were validated among other family members using Sanger sequencing. Two novel variations in the LRP2 gene were found to be strongly associated with the typical clinical features of DBS patients. This study extends the genotypic spectra for LRP2-DBS and enhances the ability of physicians to predict, diagnose, and conduct gene therapy for DBS.
FRONTIERS IN GENETICS
(2023)
Article
Ophthalmology
Qin Xiang, Yanna Cao, Hongbo Xu, Zhijian Yang, Liang Tang, Ju Xiang, Jianming Li, Hao Deng, Lamei Yuan
Summary: This study identified novel compound heterozygous variants in the MFSD8 gene as the likely cause of isolated macular dystrophy in a Chinese family, expanding the mutant spectrum of the MFSD8 gene and potentially providing more accurate genetic counseling for the family.
JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Multidisciplinary Sciences
Liping Zeng, Ziyun He, Di Liu, Kai Li, Kesheng Gu, Qi Sun, Guisen Mei, Yingxue Zhang, Shengkai Yan, Feng Zhang
Summary: To identify susceptibility genes of Schizoaffective disease (SAD) with autonomic dominant inheritance, a family group from Henan province with high incidence of SAD was recruited. Genotype detection was performed using a genome-wide high-density SNP chip, and linkage analysis was conducted to obtain the nonparametric linkage (NPL) value, corresponding P value, and LOD value. The analysis identified a significant linkage signal on chromosome 19, with the candidate region of 19p13.3-13.2.
Article
Medicine, General & Internal
Weiran Zhang, Xiaoyun Hou, Chang Li, Sennan Wang, Nianen Liu, Yan Zhang, Zhiqing Li
Summary: This study identified, for the first time, the influencing factors associated with high myopia in Chinese college students, including vessel density of the inner retina at the macula, vessel density of the radial peripapillary capillary at the optic disc, smartphone usage time, continuous near work time, and sleeping after midnight. A prediction model based on these factors was proposed to calculate the likelihood of a Chinese college student developing high myopia, which could be used to recommend lifestyle improvement and medical intervention.
FRONTIERS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Min Ye, Ya Ma, Yi-Xuan Qin, Bo Cai, Li-mei Ma, Zhen Ma, Yang Liu, Zi-Bing Jin, Wen-Juan Zhuang
Summary: We investigated genetic variations in a cohort of 113 families with nonsyndromic early-onset high myopia from northwestern China and identified sixteen potentially pathogenic variants in eight of seventeen causative genes for high myopia. These newly identified genetic variations expand the genetic and clinical spectra of high myopia and provide evidence for the contribution of ARR3, NDUFAF7, TNFRSF21, and ZNF644 genes to hereditable high myopia.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Genetics & Heredity
Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng
Summary: In this study, a novel de novo heterozygous variation in the EP300 gene was identified in a patient initially diagnosed with eoHM-RSTS. The reduced mRNA expression level of the EP300 gene suggested that this variant had an effect on gene function. The findings of this study expand the genotypic spectrum for EP300-RSTS and provide valuable information for physicians in predicting, diagnosing, counseling, and treating EP300-RSTS.
BMC MEDICAL GENOMICS
(2023)
Article
Astronomy & Astrophysics
Ian Wong, Michael E. Brown
Summary: Collisional families provide insight into asteroid populations. New observations of the Ennomos family reveal its properties and compositions, including bluer colors and distinct regolith chemistry. Comparisons with the Eurybates family suggest differences in surface spectra and support recent dynamical instability models.
ASTRONOMICAL JOURNAL
(2023)
Article
Plant Sciences
Jon Bancic, Damaris A. Odeny, Henry F. Ojulong, Samuel M. Josiah, Jaap Buntjer, R. Chris Gaynor, Stephen P. Hoad, Gregor Gorjanc, Ian K. Dawson
Summary: Advances in sequencing technologies have allowed for the exploration of crop diversification beyond major staples. This study analyzed the genome of finger millet, an orphan crop, and identified four distinct groups of accessions corresponding to major geographic regions of cultivation. The analysis of sub-genomes and phenotypic data revealed a complex diversification history, providing valuable insights for the future development of finger millet.
Article
Ophthalmology
Shi-Ming Li, Shifei Wei, David A. Atchison, Meng-Tian Kang, Luoru Liu, He Li, Siyuan Li, Zhou Yang, Yipeng Wang, Fengju Zhang, Ningli Wang
Summary: This study aimed to determine the annual incidences and rates of progression of myopia and high myopia in Chinese schoolchildren and explore the possible cause-specific risk factors for myopia. The results showed that both the annual incidence and progression rates of myopia and high myopia were high, especially after grade 3. Therefore, monitoring the hyperopic refraction of children before primary school is important to prevent the onset of myopia and high myopia.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Multidisciplinary Sciences
Xi Wu, Cong Huai, Lu Shen, Mo Li, Chao Yang, Juan Zhang, Luan Chen, Wenli Zhu, Lingzi Fan, Wei Zhou, Qinghe Xing, Lin He, Chunling Wan, Shengying Qin
Summary: The study found that patients with schizophrenia in Chinese families carried more duplications compared to healthy family members and controls, and identified new CNV loci associated with schizophrenia. Two genes within these CNVs showed significant relevance to schizophrenia, supporting the role of CNVs in schizophrenia etiology and providing new insights into the pathogenesis of schizophrenia.
Article
Biotechnology & Applied Microbiology
Sirlene Viana de Faria, Leandro Tonello Zuffo, Wemerson Mendonca Rezende, Diego Goncalves Caixeta, Helcio Duarte Pereira, Camila Ferreira Azevedo, Rodrigo Oliveira DeLima
Summary: In this study, the genetic diversity and population differentiation of tropical maize inbred lines from a breeding program in Brazil were characterized. The results showed significant variation in both phenotypic and genotypic characteristics among the inbred lines. The population structure analysis identified three subpopulations, which could be useful for future breeding programs.
Article
Biochemistry & Molecular Biology
Shilai Xing, Siyi Jiang, Siyu Wang, Peng Lin, Haojun Sun, Hui Peng, Jiaying Yang, Hengte Kong, Sheng Wang, Qingshi Bai, Ruowen Qiu, Wei Dai, Jian Yuan, Yunlong Ma, Xiaoguang Yu, Yinghao Yao, Jianzhong Su
Summary: This study discovered a link between mitochondrial DNA mutations and high myopia. Nine novel genetic variants associated with high myopia were identified, including the rs370378529 variant in the ND2 gene with an odds ratio of 5.25. These findings highlight the critical role of mitochondrial variants in the genetic etiology of high myopia.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Ophthalmology
Sainan Xiao, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Hualei Luo, Xiaoyun Jia, Jiamin Ouyang, Xueqing Li, Yingwei Wang, Yi Jiang, Panfeng Wang, Qingjiong Zhang
Summary: Almost all rare RS1 variants were found to be potential pathogenic, with all patients with RS1 pathogenic variants showing detectable characteristics in the macula and/or peripheral retina. These findings may be valuable for clinical diagnosis and genetic testing of retinoschisis.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Yingwei Wang, Xueshan Xiao, Xueqing Li, Zhen Yi, Yi Jiang, Fengsheng Zhang, Lin Zhou, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: This study elucidates the genetic background of early-onset high myopia (eoHM) and the characteristics of ARR3-associated MYP26. It reveals that ARR3 is the most frequently implicated gene for Mendelian eoHM, with mutations leading to mild cone impairment and progression to pathologic myopia.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Jiamin Ouyang, Wenmin Sun, Huangxuan Shen, Xing Liu, Yingchen Wu, Hongmei Jiang, Xueqing Li, Yingwei Wang, Yi Jiang, Shiqiang Li, Xueshan Xiao, J. Fielding Hejtmancik, Zhiqun Tan, Qingjiong Zhang
Summary: Mutations in MYRF gene are associated with high hyperopia and may contribute to the development of angle closure glaucoma. MYRF is highly expressed in the ciliary body and ganglion cell layer, and mutations in MYRF result in elevated intraocular pressure and thinning of the retinal nerve fiber layer.
Article
Biochemistry & Molecular Biology
Di Zhu, Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Qingjiong Zhang
Summary: This study describes the variant landscape of 15 genes responsible for corneal dystrophies (CDs) in Chinese families. Pathogenic or likely pathogenic variants were detected in 4 of the 15 genes in 30 of the 37 families with CDs. Comparative analysis revealed that some previously reported variants are unlikely causative of CDs. The study highlights the importance of understanding frequently misinterpreted variants in genomic medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: Variants in PRPH2 were analyzed in this study using online prediction tools and large datasets. Ten pathogenic or likely pathogenic variants were identified in 14 families, with p.G305Afs*19 being the most frequent variant. The study proposed novel insights into the genotype-phenotype correlation of PRPH2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Yuxi Zheng, Xiaoyun Jia, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang, Panfeng Wang
Summary: During the COVID-19 pandemic, the onset of Leber hereditary optic neuropathy (LHON) changed and new risk factors were identified. The age of LHON onset decreased significantly during this period, and secondhand smoke exposure and mask-wearing were found to be independent risk factors for younger LHON onset.
Article
Genetics & Heredity
Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: Variants in FDXR are associated with autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study identified 11 unrelated patients with biallelic pathogenic or likely pathogenic FDXR variants, including 10 novel missense variants. Clinical data revealed severe optic atrophy, retinal degeneration, and various retinal vascular abnormalities in these patients. Biallelic FDXR variants are a common cause of congenital or early-onset severe retinal dystrophy, particularly in patients with optic atrophy and retinal dystrophy in early childhood.
Review
Genetics & Heredity
Dongwei Guo, Qingjiong Zhang
Summary: Congenital cataract is a common cause of visual loss in children worldwide, and it is genetically and phenotypically heterogeneous. The LSS gene plays a role in cholesterol biosynthesis and has been linked to various conditions including congenital cataract and hypotrichosis. This study identified LSS variants in a 12-year-old boy with congenital nuclear cataract and hypotrichosis, expanding our understanding of LSS gene and providing insights for genetic counseling.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cell & Tissue Engineering
Zixuan Jiang, Wenmin Sun, Qingjiong Zhang, Panfeng Wang
Summary: Knobloch syndrome is an autosomal recessive disorder characterized by high myopia, retinal detachment, and occipital skull defects. Mutations in the COL18A1 gene have been identified to cause KNO1. Here, we successfully generated a human induced pluripotent stem cell (hiPSC) line from the peripheral blood mononuclear cells (PBMCs) of a KNO patient caused by COL18A1 biallelic pathogenic variants, and this iPSC model offers a precious disease model to study the pathological mechanism and possible treatment of KNO in vitro.
STEM CELL RESEARCH
(2023)
Review
Genetics & Heredity
Sainan Xiao, Zhen Yi, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Ping Lian, Wenmin Sun, Panfeng Wang, Lin Lu, Qingjiong Zhang
Summary: This study analyzed the clinical characteristics and prognosis of autosomal dominant retinopathy (ADRP) and autosomal recessive retinopathy (ARRP) associated with NR2E3. Nine pathogenic variants/likely pathogenic variants in NR2E3 were detected, including five novel variants. Follow-up data showed schisis/atrophy in the macula and retinal degeneration initiation around the vascular arcades in both ADRP and ARRP, but ADRP patients had better visual acuity and later onset age compared to ARRP patients.
Article
Immunology
Yingwei Wang, Yi Jiang, Junwen Wang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: This study identified six patients who presented with retinopathy as their initial symptom of HID, contrary to previous reports where retinopathy was an accompanying symptom of systemic HID.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Ophthalmology
Yingwei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang, Jiamin Ouyang, Junwen Wang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang
Summary: This study aimed to identify the contribution of OPN1LW to early-onset high myopia (eoHM) and the molecular basis underlying eoHM with or without colorblindness. Unique haplotypes and truncation variants in OPN1LW were found exclusively in 68 of 1226 families with eoHM, but not in 9304 families with other visual diseases. Four classes of variants were identified, which cause partial or complete loss of red photopigments. The study provides evidence that eoHM with or without colorblindness are caused by different variants in OPN1LW.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Ophthalmology
Yi Jiang, Lin Zhou, Yingwei Wang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Junwen Wang, Zhen Yi, Wenmin Sun, Xiaodong Jiao, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang
Summary: The study aims to elucidate the clinical and genetic features of LOXL3-associated MYP28. Through exome sequencing, LOXL3 biallelic variants were exclusively identified in 9 families with eoHM. Patients with biallelic LOXL3 variants showed early-onset high myopia, slow progression, and specific fundus changes.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Ophthalmology
Panfeng Wang, Pengsen Wu, Junwen Wang, Yiyan Zeng, Yi Jiang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang
Summary: This study reports a new autosomal dominant ocular syndrome (BAMD) syndrome caused by monoallelic MAB21L1 pathogenic variants, which is completely different from COFG syndrome caused by biallelic variants in MAB21L1. The study suggests that heterozygous pathogenic variants in MAB21L1 account for the AD BAMD syndrome, and c.152 nucleotide is likely a mutation hot spot, with the residue p.Arg51 being critical for MAB21L1.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Wenhui Zhou, Zixuan Jiang, Zhen Yi, Jiamin Ouyang, Xueqing Li, Qingjiong Zhang, Panfeng Wang
Summary: This study systematically investigated the association between TIMPs and MMPs genes and early-onset high myopia (eoHM). Two LoF variants in the TIMP4 gene were found to be significantly associated with eoHM, and Timp4 defect was shown to influence ocular tissue morphology and function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
