Congenital cataracts: de novo gene conversion event in CRYBB2.

Abstract:

PURPOSE:To identify the cause of congenital cataracts in a consanguineous family of Ashkenazi Jewish ancestry. METHODS:We performed genome-wide linkage analysis and whole-exome sequencing for the initial discovery of variants, and we confirmed the variants using gene-specific primers and Sanger sequencing. RESULTS:We found significant evidence of linkage to chromosome 22, under an autosomal dominant inheritance model, with a maximum logarithm of the odds (LOD) score of 3.91 (16.918 to 25.641 Mb). Exome sequencing identified three nonsynonymous changes in the CRYBB2 exon 5 coding sequence that are consistent with the sequence of the corresponding region of the pseudogene CRYBB2P1. The identification of these changes was complicated by possible mismapping of some mutated CRYBB2 sequences to CRYBB2P1. Sequencing with gene-specific primers confirmed that the changes--rs2330991, c.433 C>T (p.R145W); rs2330992, c.440A>G (p.Q147R); and rs4049504, c.449C>T (p.T150M)--present in all ten affected family members are located in CRYBB2 and are not artifacts of cross-reaction with CRYBB2P1. We did not find these changes in six unaffected family members, including the unaffected grandfather who contributed the affected haplotype, nor did we find them in the 100 Ashkenazi Jewish controls. CONCLUSIONS:Our data are consistent with a de novo gene conversion event, transferring 270 base pairs at most from CRYBB2P1 to exon 5 of CRYBB2. This study highlights how linkage mapping can be complicated by de novo mutation events, as well as how sequence-analysis pipeline mapping of short reads from next-generation sequencing can be complicated by the existence of pseudogenes or other highly homologous sequences.

journal_name

Mol Vis

journal_title

Molecular vision

authors

Garnai SJ,Huyghe JR,Reed DM,Scott KM,Liebmann JM,Boehnke M,Richards JE,Ritch R,Pawar H

subject

Has Abstract

pub_date

2014-11-06 00:00:00

pages

1579-93

issn

1090-0535

journal_volume

20

pub_type

杂志文章
  • Establishment of a continuous untransfected human corneal endothelial cell line and its biocompatibility to denuded amniotic membrane.

    abstract:PURPOSE:To establish an untransfected human corneal endothelial (HCE) cell line and characterize its biocompatibility to denuded amniotic membrane (dAM). METHODS:Primary culture was initiated with a pure population of HCE cells in DMEM/F12 media (pH 7.2) containing 20% fetal bovine serum and various supplements. The e...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Fan T,Zhao J,Ma X,Xu X,Zhao W,Xu B

    更新日期:2011-02-15 00:00:00

  • Use of superparamagnetic microbeads in tracking subretinal injections.

    abstract:PURPOSE:The purpose of these studies was to develop a method to track intraocular injections. METHODS:Retinal pigment epithelial (RPE) cells, purified from adult mouse eyes, were incubated with superparamagnetic microbeads (Dynabeads, 4.5 microm) coated with bovine serum albumin to verify that they could phagocytose t...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Wen J,McKenna KC,Barron BC,Langston HP,Kapp JA

    更新日期:2005-04-15 00:00:00

  • Regulation of the hyperosmotic induction of aquaporin 5 and VEGF in retinal pigment epithelial cells: involvement of NFAT5.

    abstract:PURPOSE:High intake of dietary salt increases extracellular osmolarity, which results in hypertension, a risk factor of neovascular age-related macular degeneration. Neovascular retinal diseases are associated with edema. Various factors and channels, including vascular endothelial growth factor (VEGF) and aquaporins (...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Hollborn M,Vogler S,Reichenbach A,Wiedemann P,Bringmann A,Kohen L

    更新日期:2015-04-09 00:00:00

  • Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses.

    abstract:PURPOSE:Age-related cataract is a multi-factorial disease with a poorly understood etiology. Numerous studies provide evidence that the human eye lens has evolved specific regulatory and protective systems to ameliorate lens damage associated with cataract. Other studies suggest that the presence of cataract is associa...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Hawse JR,Hejtmancik JF,Huang Q,Sheets NL,Hosack DA,Lempicki RA,Horwitz J,Kantorow M

    更新日期:2003-10-07 00:00:00

  • Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas.

    abstract:PURPOSE:Matrix metalloproteinases (MMPs) play an essential role in the turnover of the extracellular matrix and cellular behavior. MMP1, MMP2, and MMP9 have previously been implicated in the pathogenesis of primary open angle glaucoma (POAG) and open angle glaucoma secondary to exfoliation syndrome (XFG), respectively....

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Mossböck G,Weger M,Faschinger C,Zimmermann C,Schmut O,Renner W,El-Shabrawi Y

    更新日期:2010-08-28 00:00:00

  • A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

    abstract:PURPOSE:Corneal dystrophy of Bowman's layer (CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene. CDB is further divided into a geographic variant (CDB1/Reis Bücklers, RBCD), and a honeycomb variant (CDB2/Thiel Behnke, TBCD). We undertook mutation...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Wheeldon CE,de Karolyi BH,Patel DV,Sherwin T,McGhee CN,Vincent AL

    更新日期:2008-08-18 00:00:00

  • Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy.

    abstract:PURPOSE:Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis, and nitric oxide (NO) is an upstream and downstream regulator of VEGF mediated angiogenesis. VEGF and NO have been suggested to play an important role in the pathogenesis of microvascular complications in diabetic retinopathy (DR). T...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Suganthalakshmi B,Anand R,Kim R,Mahalakshmi R,Karthikprakash S,Namperumalsamy P,Sundaresan P

    更新日期:2006-04-11 00:00:00

  • Localization of pigment epithelium derived factor (PEDF) in developing and adult human ocular tissues.

    abstract:PURPOSE:To localize pigment epithelium-derived factor (PEDF) in developing and adult human ocular tissues. METHODS:PEDF was localized in fetal and adult eyes by immunofluorescence with a polyclonal antibody (pAb) against amino acids 327-343 of PEDF, or a monoclonal antibody (mAb) against the C-terminal 155 amino acids...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Karakousis PC,John SK,Behling KC,Surace EM,Smith JE,Hendrickson A,Tang WX,Bennett J,Milam AH

    更新日期:2001-06-30 00:00:00

  • FGF-2 induced reorganization and disruption of actin cytoskeleton through PI 3-kinase, Rho, and Cdc42 in corneal endothelial cells.

    abstract:PURPOSE:Corneal endothelial cells (CECs) undergo endothelial to mesenchymal transformation (EMT) in response to FGF-2 stimulation. One phenotypic change that occurs during EMT is a change in cell shape from polygonal to elongated fibroblast-like cells. We investigated whether FGF-2 plays a role in this morphogenetic pa...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Lee HT,Kay EP

    更新日期:2003-12-08 00:00:00

  • Crystallins in water soluble-high molecular weight protein fractions and water insoluble protein fractions in aging and cataractous human lenses.

    abstract:PURPOSE:The aim of the study was to comparatively analyze crystallin fragments in the water soluble high molecular weight (WS-HMW) and in the water insoluble (WI) protein fractions of human cataractous (with nuclear opacity) and age matched normal lenses to determine the identity of crystallin species that show catarac...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Harrington V,McCall S,Huynh S,Srivastava K,Srivastava OP

    更新日期:2004-07-19 00:00:00

  • Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration.

    abstract:PURPOSE:To determine whether gene polymorphisms of the major genetic risk factor for age-related macular susceptibility 2 (ARMS2 A69S) and the complement factor H Y402H influence the response to a variable-dosing treatment regimen with ranibizumab for age-related macular degeneration. METHODS:This prospective cohort s...

    journal_title:Molecular vision

    pub_type: 临床试验,杂志文章

    doi:

    authors: Teper SJ,Nowinska A,Pilat J,Palucha A,Wylegala E

    更新日期:2010-12-07 00:00:00

  • In vitro ultraviolet-induced damage in human corneal, lens, and retinal pigment epithelial cells.

    abstract:PURPOSE:The purpose was to develop suitable in vitro methods to detect ocular epithelial cell damage when exposed to UV radiation, in an effort to evaluate UV-absorbing ophthalmic biomaterials. METHODS:Human corneal epithelial cells (HCEC), lens epithelial cells (HLEC), and retinal pigment epithelial cells (ARPE-19) w...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Youn HY,McCanna DJ,Sivak JG,Jones LW

    更新日期:2011-01-21 00:00:00

  • Maternal administration of anti-angiogenic agents, TNP-470 and Angiostatin4.5, induces fetal microphthalmia.

    abstract:PURPOSE:Agents specifically targeting the vasculature as a mode of therapy are finding increasing use in the clinic, primarily in the treatment of colon cancer (Avastin) and age-related macular degeneration (Lucentis). We have previously shown that maternal administration of angiogenic inhibitors (TNP-470 [O-[chloroace...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Rutland CS,Jiang K,Soff GA,Mitchell CA

    更新日期:2009-06-26 00:00:00

  • A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

    abstract:PURPOSE:Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is clinically and genetic...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Tiab L,Largueche L,Chouchane I,Derouiche K,Munier FL,El Matri L,Schorderet DF

    更新日期:2013-04-05 00:00:00

  • Absence of Vsx1 expression in the normal and damaged mouse cornea.

    abstract:PURPOSE:To examine the expression of visual system homeobox 1 (Vsx1) in the mouse cornea and its potential role in the corneal wound response pathway. METHODS:Expression of Vsx1 was examined by quantitative reverse-transcription PCR (qRT-PCR) in corneal tissue from developing and adult mice and from mice that had unde...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Watson T,Chow RL

    更新日期:2011-03-16 00:00:00

  • Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.

    abstract:Purpose:To describe the mutation spectrum of SPATA7 and associated ocular phenotypes. Methods:As part of a continuing examination of the genetic basis of inherited ophthalmic diseases, sequencing variations in SPATA7 were identified in sequencing data from 5,090 probands. Mutations in SPATA7 were identified in 12 Chin...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Xiao X,Sun W,Li S,Jia X,Zhang Q

    更新日期:2019-12-02 00:00:00

  • LOXL1 expression in lens capsule tissue specimens from individuals with pseudoexfoliation syndrome and glaucoma.

    abstract:PURPOSE:To study lysyl oxidase-like 1 (LOXL1) expression in freshly collected lens capsules from pseudoexfoliation syndrome (XFS), pseudoexfoliation glaucoma (XFG), and normal cataract control individuals. We also investigated the effects of four glaucoma drug medications on LOXL1 expression in primary human lens epith...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Khan TT,Li G,Navarro ID,Kastury RD,Zeil CJ,Semchyshyn TM,Moya FJ,Epstein DL,Gonzalez P,Challa P

    更新日期:2010-11-02 00:00:00

  • Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration.

    abstract:PURPOSE:Genetic factors influence an individual's risk for developing neovascular age-related macular degeneration (AMD), a leading cause of irreversible blindness. Previous studies on the potential genetic link between AMD and vascular endothelial growth factor (VEGF), a key regulator of angiogenesis and vascular perm...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Fang AM,Lee AY,Kulkarni M,Osborn MP,Brantley MA Jr

    更新日期:2009-12-10 00:00:00

  • Immunohistochemical study of pig retinal development.

    abstract:PURPOSE:The pig eye is similar to the human eye in terms of anatomy, vasculature, and photoreceptor distribution, and therefore provides an attractive animal model for research into retinal disease. The purpose of this study was to characterize retinal histology in the developing and mature pig retina using antibodies ...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Guduric-Fuchs J,Ringland LJ,Gu P,Dellett M,Archer DB,Cogliati T

    更新日期:2009-09-21 00:00:00

  • Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.

    abstract:PURPOSE:The neurotrophin-4 (NTF4) gene has been recently implicated in primary open-angle glaucoma (POAG). In this study, we investigated the implication of NTF4 in POAG among three Chinese cohorts. METHODS:The coding regions and exon-intron boundaries of NTF4 was sequenced in 950 unrelated Chinese subjects, including...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Chen LJ,Ng TK,Fan AH,Leung DY,Zhang M,Wang N,Zheng Y,Liang XY,Chiang SW,Tam PO,Pang CP

    更新日期:2012-01-01 00:00:00

  • High levels of retinal docosahexaenoic acid do not protect photoreceptor degeneration in VPP transgenic mice.

    abstract:PURPOSE:To determine whether docosahexaenoic acid can protect against hereditary retinal degenerations in transgenic mice expressing the V20G, P23H, and P27L (VPP) rhodopsin mutations. METHODS:Female transgenic mice expressing the VPP rhodopsin mutation, known to cause a retinal degeneration, were bred to male transge...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Li F,Marchette LD,Brush RS,Elliott MH,Davis KR,Anderson AG,Anderson RE

    更新日期:2010-08-18 00:00:00

  • Polymorphism of the endothelial nitric oxide synthase gene is associated with diabetic retinopathy in a cohort of West Africans.

    abstract:PURPOSE:In addition to chronic hyperglycemia, there is increasing evidence that genetic factors may be important in the development of diabetes retinopathy (DR). Specifically, polymorphisms of the endothelial nitric oxide synthase gene (eNOS) have been reported to be associated with multiple health conditions including...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Chen Y,Huang H,Zhou J,Doumatey A,Lashley K,Chen G,Agyenim-Boateng K,Eghan BA,Acheampong J,Fasanmade O,Johnson T,Akinsola FB,Okafor G,Oli J,Ezepue F,Amoah A,Akafo S,Adeyemo A,Rotimi CN

    更新日期:2007-11-26 00:00:00

  • Ocular pathogenesis and immune reaction after intravitreal dispase injection in mice.

    abstract:PURPOSE:The purpose of the current study was to examine the ocular pathogenesis and immune reaction in mice after intravitreal dispase injection. METHODS:Three microliters of dispase at a concentration of 0.2 U/μl were injected into the vitreal cavities of 4-6-week-old mice. Hematoxylin and eosin staining, immunofluor...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Tan J,Liu Y,Li W,Gao Q

    更新日期:2012-01-01 00:00:00

  • Heparanase mediates vascular endothelial growth factor gene transcription in high-glucose human retinal microvascular endothelial cells.

    abstract:PURPOSE:To observe the nuclear expression and interaction of heparanase and RNA polymerase II (RNA Pol II), an enzyme that catalyzes the transcription of DNA in eukaryotic cells) in human retinal microvascular endothelial cells (HRECs) under high glucose condition and to investigate the association of heparanase with t...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Hu J,Wang J,Leng X,Hu Y,Shen H,Song X

    更新日期:2017-08-10 00:00:00

  • Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

    abstract:PURPOSE:To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS:Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, ...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Li Y,Deng T,Tong Y,Peng S,Dong B,He D

    更新日期:2008-01-01 00:00:00

  • Astrocytes in the optic nerve head express putative mechanosensitive channels.

    abstract:PURPOSE:To establish whether optic nerve head astrocytes express candidate molecules to sense tissue stretch. METHODS:We used conventional PCR, quantitative PCR, and single-cell reverse transcription PCR (RT-PCR) to assess the expression of various members of the transient receptor potential (TRP) channel family and o...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Choi HJ,Sun D,Jakobs TC

    更新日期:2015-07-14 00:00:00

  • Mesenchymal cells from limbal stroma of human eye.

    abstract:PURPOSE:Mesenchymal stem cells (MSC) are self-renewing, multipotent cells that are present in many adult tissues, including bone marrow, trabecular bone, adipose, and muscle. The presence of such cells of mesenchymal origin and their role during the wound healing of ocular injuries are currently being explored by many ...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Polisetty N,Fatima A,Madhira SL,Sangwan VS,Vemuganti GK

    更新日期:2008-03-04 00:00:00

  • Differential interaction of molecular chaperones with procollagen I and type IV collagen in corneal endothelial cells.

    abstract:PURPOSE:Procollagen I is synthesized and intracellularly degraded in corneal endothelial cells (CEC), whereas type IV and VIII collagens are secreted into Descemet's membrane. In our previous study, we demonstrated that procollagen I synthesized by CEC is improperly folded and that the molecule was largely colocalized ...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Ko MK,Kay EP

    更新日期:2002-01-11 00:00:00

  • Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.

    abstract:Purpose:Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of the RB1 gene. Early diagnosis and identification of carriers of heritable mutations in RB1 can improve disease outcome and management. In this study, we present the spectrum of mutations in the RB1 gene in Vietnam...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Kiet NC,Khuong LT,Minh DD,Nguyen The Vinh.,Quan NHM,Xinh PT,Trang NNC,Luan NT,Khai NM,Vu HA

    更新日期:2019-04-04 00:00:00

  • Quantitative changes in gene transcription during induction of differentiation in porcine neural progenitor cells.

    abstract:PURPOSE:Differentiation of neural stem/progenitor cells involves changes in the gene expression of these cells. Less clear is the extent to which incremental changes occur and the time course of such changes, particularly in non-rodents. METHODS:Using porcine genome microarrays, we analyzed changes in the expression o...

    journal_title:Molecular vision

    pub_type: 杂志文章

    doi:

    authors: Yang J,Gu P,Menges S,Klassen H

    更新日期:2012-01-01 00:00:00