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58. A meta-analysis of echocardiographic measurements of the left heart for the development of normative reference ranges in a large international cohort: the EchoNoRMAL study

Author

Anderson T., Dyck J., Ezekowitz J. A., Chirinos J. A., De Buyzere M. L., Gillebert T. C., Rietzschel E., Segers P., Van Daele C. M., Doughty R. N., Poppe K. K., Walsh H. A., Whalley G. A., Chen P. C., Chien K. L., Lin H. J., Su, T. C., Mogelvang R., Jensen J. S., Chadha D. S., Goel K., Misra A., Detrano R., Cameron V., Richards A. M., Troughton R., Di Pasquale P., Paterna S., Duzenli M. A., Hobbs F. D. R., Davies M. K., Davis R. C., Roalfe A., Calvert M., Freemantle N., Gill, P. S., Lip G. Y. H., Kuznetsova T., Staessen J. A., Dargie H. J., Ford I., McDonagh T. A., McMurray J. J. V., Grossman E., Galasko G., Lahiri A., Senior R., Blauwet L., Sliwa K., Stewart S., Brown A., Carrington M., Krum H., McGrady M., Zeitz C., Dalen H., Hansen H. E. M., Støylen A., Thorstensen A., Daimon M., Watanabe H., Yoshikawa J., Fukuda S., Kim H. K., Leung N. K. W., Linhart A., Chahal N., Chambers J. C., Kooner J., Davies J., Loke I., Ng, L., Squire I. B., Aune E., Otterstad J. E., Leung D. Y., Ng A. C. T., Ojji D., Arnold L., Coffey S., D'Arcy J., Hammond C., Mabbett C., Lima C., Loudon M., Pinheiro N., Prendergast B., Reynolds R., Badano L. P., Muraru D., Peluso D., Dal Bianco L., Petrovic D. J., Petrovic J., Schvartzman P., Fuchs F. D., Katova T., Simova I., Kaku K., Takeuchi M., Boyd A., Thomas L., Chia E. M., Schirmer H., Angelo L. C., Pereira A. C., Krieger J. E., Mill J. G., Rodrigues S. L., Muiesan M. L., Paini A., Rosei E. A., Salvetti M., Gardin J. M., Nagueh S. F., Altman D., Perera R., Triggs C. M., Au Yeung H., Beans Picon G. A., IZZO, RAFFAELE, DE LUCA, NICOLA, TRIMARCO, BRUNO, DE SIMONE, GIOVANNI, Anderson, T., Dyck, J., Ezekowitz, J. A., Chirinos, J. A., De Buyzere, M. L., Gillebert, T. C., Rietzschel, E., Segers, P., Van Daele, C. M., Doughty, R. N., Poppe, K. K., Walsh, H. A., Whalley, G. A., Izzo, Raffaele, DE LUCA, Nicola, Trimarco, Bruno, DE SIMONE, Giovanni, Chen, P. C., Chien, K. L., Lin, H. J., Su, T. C., Mogelvang, R., Jensen, J. S., Chadha, D. S., Goel, K., Misra, A., Detrano, R., Cameron, V., Richards, A. M., Troughton, R., Di Pasquale, P., Paterna, S., Duzenli, M. A., Hobbs, F. D. R., Davies, M. K., Davis, R. C., Roalfe, A., Calvert, M., Freemantle, N., Gill, P. S., Lip, G. Y. H., Kuznetsova, T., Staessen, J. A., Dargie, H. J., Ford, I., Mcdonagh, T. A., Mcmurray, J. J. V., Grossman, E., Galasko, G., Lahiri, A., Senior, R., Blauwet, L., Sliwa, K., Stewart, S., Brown, A., Carrington, M., Krum, H., Mcgrady, M., Zeitz, C., Dalen, H., Hansen, H. E. M., Støylen, A., Thorstensen, A., Daimon, M., Watanabe, H., Yoshikawa, J., Fukuda, S., Kim, H. K., Leung, N. K. W., Linhart, A., Chahal, N., Chambers, J. C., Kooner, J., Davies, J., Loke, I., Ng, L., Squire, I. B., Aune, E., Otterstad, J. E., Leung, D. Y., Ng, A. C. T., Ojji, D., Arnold, L., Coffey, S., D'Arcy, J., Hammond, C., Mabbett, C., Lima, C., Loudon, M., Pinheiro, N., Prendergast, B., Reynolds, R., Badano, L. P., Muraru, D., Peluso, D., Dal Bianco, L., Petrovic, D. J., Petrovic, J., Schvartzman, P., Fuchs, F. D., Katova, T., Simova, I., Kaku, K., Takeuchi, M., Boyd, A., Thomas, L., Chia, E. M., Schirmer, H., Angelo, L. C., Pereira, A. C., Krieger, J. E., Mill, J. G., Rodrigues, S. L., Muiesan, M. L., Paini, A., Rosei, E. A., Salvetti, M., Gardin, J. M., Nagueh, S. F., Altman, D., Perera, R., Triggs, C. M., Au Yeung, H., Beans Picon, G. A., and Badano, L

Subjects
Male, Pediatrics, International Cooperation, Left, Ethnic Group, Sex Factor, Ventricular Function, Left, Heart Ventricle, Cohort Studies, Echocardiography, Meta-analysis, Reference ranges, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Atrial Function, Left, Ethnic Groups, Female, Heart Atria, Heart Ventricles, Humans, Middle Aged, Reference Standards, Sex Factors, Young Adult, Cardiology and Cardiovascular Medicine, Radiology, Nuclear Medicine and Imaging, Nuclear Medicine and Imaging, 80 and over, Ethnicity, Ventricular Function, Age Factor, Young adult, education.field_of_study, General Medicine, Atrial Function, Parametric Regression Method, Cohort, Cardiology, Radiology, Human, Cohort study, medicine.medical_specialty, Population, Internal medicine, medicine, Meta-analysi, Radiology, Nuclear Medicine and imaging, education, business.industry, Reference range, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Quantile regression, Reference Standard, Normative, Cohort Studie, business
Abstract

Aim: To develop age-, sex-, and ethnic-Appropriate normative reference ranges for standard echocardiographic measurements of the left heart by combining echocardiographic measurements obtained from adult volunteers without clinical cardiovascular disease or significant cardiovascular risk factors, from multiple studies around the world.Methods and results: The Echocardiographic Normal Ranges Meta-Analysis of the Left heart (EchoNoRMAL) collaboration was established and population-based data sets of echocardiographic measurements combined to perform an individual person data meta-Analysis. Data from 43 studies were received, representing 51 222 subjects, of which 22 404 adults aged 18-80 years were without clinical cardiovascular or renal disease, hypertension or diabetes. Quantile regression or an appropriate parametric regression method will be used to derive reference values at the 5th and 95th centile of each measurement against age. Conclusion: This unique data set represents a large, multi-ethnic cohort of subjects resident in a wide range of countries. The resultant reference ranges will have wide applicability for normative data based on age, sex, and ethnicity. © The Author 2013.

Published
2013
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62. Impact of Cardiac Rehabilitation on Late Clinical Outcomes: Non–Attenders Versus Attenders On Behalf of the South Australian Public Hospital Cardiac Rehabilitation Service Providers

Author

Astley, C., primary, Chew, D., additional, Clark, R., additional, Keech, W., additional, Horsfall, M., additional, Tideman, P., additional, Tirimacco, R., additional, Beltrame, J., additional, Tavella, R., additional, Zeitz, C., additional, Arstall, M., additional, and Nicholls, S., additional

Published
2018
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64. Prevalence and Outcomes of Obstructive Sleep Apnoea in South Australian Population Undergoing Coronary Angiography: Insights From CADOSA Registry

Author

Ooi, E., primary, Rajendran, S., additional, Arstall, M., additional, Mahadevan, G., additional, Pati, P., additional, McEvoy, D., additional, Hnin, K., additional, Tavella, R., additional, Air, T., additional, Sinhal, A., additional, Worthley, M., additional, Zeitz, C., additional, and Beltrame, J., additional

Published
2018
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67. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant

Author

Audo, I., primary, El Shamieh, S., additional, Méjécase, C., additional, Michiels, C., additional, Demontant, V., additional, Antonio, A., additional, Condroyer, C., additional, Boyard, F., additional, Letexier, M., additional, Saraiva, J.-P., additional, Blanchard, S., additional, Mohand-Saïd, S., additional, Sahel, J.-A., additional, and Zeitz, C., additional

Published
2017
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73. Ethnic-specific normative reference values for echocardiographic la and LV size, LV mass, and systolic function: The EchoNoRMAL study

Author

Poppe, K. K., Doughty, R. N., Gardin, J. M., Nagueh, S. F., Whalley, G. A., Cameron, V., Chadha, D. S., Chien, K. L., Detrano, R., Akif Duzenli, M., Ezekowitz, J., Di Pasquale, P., Mogelvang, R., Altman, D. G., Perera, R., Triggs, C. M., Au Yeung, H., Beans Picon, G. A., Anderson, T., Dyck, J., Ezekowitz, J. A., Chirinos, J. A., De Buyzere, M. L., Gillebert, T. C., Rietzschel, E., Segers, P., Van daele, C. M., Walsh, H. A., Izzo, R., De Luca, N., Trimarco, B., De Simone, G., Goel, K., Misra, A., Chen, P. C., Lin, H. J., T. C., Su, Richards, A. M., Troughton, R., Skov Jensen, J., Paterna, S., Hobbs, F. D. R., Davies, M. K., Davis, R. C., Roalfe, A., Calvert, M., Freemantle, N., Gill, P. S., Lip, G. Y. H., Kuznetsova, T., Staessen, J. A., Dargie, H. J., Ford, I., Mcdonagh, T. A., Mcmurray, J. J. V., Grossman, E., Galasko, G., Lahiri, A., Senior, R., Brown, A., Carrington, M., Krum, H., Mcgrady, M., Stewart, S., Zeitz, C., Blauwet, L., Sliwa, K., Dalen, H., Moelmen Hansen, H. E., Stoylen, A., Thorstensen, A., Daimon, M., Watanabe, H., Yoshikawa, J., Fukuda, S., Kim, H. K., Leung, N. K. W., Linhart, A., Chahal, N., Chambers, J. C., Kooner, J., Davies, J., Loke, I., Ng, L., Squire, I. B., Aune, E., Otterstad, J. E., Leung, D. Y., A. C. T., Ng, Ojji, D., Arnold, L., Coffey, S., D'Arcy, J., Hammond, C., Mabbett, C., Lima, C., Loudon, M., Pinheiro, N., Prendergast, B., Reynolds, R., Badano, L. P., Muraru, D., Peluso, D., DAL BIANCO, Laura, Petrovic, D. J., Petrovic, J., Schvartzman, P., Fuchs, F. D., Katova, T., Simova, I., Kaku, K., Takeuchi, M., Boyd, A., Chia, E. M., Thomas, L., Schirmer, H., Angelo, L. C., Pereira, A. C., Krieger, J. E., Mill, J. G., Rodrigues, S. L., Muiesan, Maria Lorenza, Paini, Anna, AGABITI ROSEI, Enrico, and Salvetti, Massimo

Subjects
Nuclear Medicine and Imaging, echocardiography, ethnic appropriate, reference ranges, Cardiology and Cardiovascular Medicine, Radiology, Nuclear Medicine and Imaging, Radiology
Published
2015

74. Clinical and coronary haemodynamic determinants of persistent chest pain in patients with non-obstructive coronary artery disease-A pilot study.

Author

Di Fiore D., Beltrame J., Sheikh A., Zeitz C., Rajendran S., Tavella R., Di Fiore D., Beltrame J., Sheikh A., Zeitz C., Rajendran S., and Tavella R.

Abstract

Introduction: A third of patients undergoing elective angiography have chest pain without obstructive coronary artery disease (NoCAD), with many having persistent symptoms. The objective of the study is to identify the clinical and coronary haemodynamic determinants of persistent chest pain at 1 month in NoCAD patients. Method(s): Patients with NoCAD underwent invasive coronary haemodynamic testing including: (1) Microvascular function assessment using coronary flow reserve (CFR) and hyperaemic microvascular resistance (hMR) measured by a combined pressure/Doppler wire at peak hyperaemia induced by intravenous adenosine infusion (140mcg/kg/min), (2) Coronary endothelial function assessment with low dose intracoronary acetylcholine (IC-ACh) infusions (0.18mcg/min & 1.8mcg/min over 2 min respectively), and (3) Spasm provocation testing by IC-ACh boluses (25, 50 and 100mcg). Health status (symptoms, physical limitations and quality of life) was assessed at baseline and 1 month. Result(s): Of the 40 recruited patients (77% female, 54+/-11 years), 30 (75%) continued to experience chest pain. Univariate analysis revealed frequent chest pain prior to angiography (93% vs 50% P=0.004), prior unstable angina admission (73% vs 33% P=0.014) and microvascular dysfunction defined as hMR >1.9 (67% vs 30% P= 0.042) were determinants of persistent symptoms at 1 month.Onmultivariate logistic regression analysis, only abnormal hMR was an independent determinant of persistent chest pain (odd ratio, 4.83; 95% confidence interval, 0.91-25.71; P=0.06). Conclusion(s): Two-thirds of patients with NoCAD have persistent chest pain one month following elective angiography. An abnormal hMR is an independent predictor of this outcome and therapies targeting the microvascular dysfunction may alleviate the symptoms.

Published
2016

75. A common NYX mutation in Flemish patients with X-linked CSNB

Author

Leroy, B P, Budde, B, Wittmer, M, De Baere, E, Berger, W, Zeitz, C, University of Zurich, and Zeitz, C

Subjects
11124 Institute of Medical Molecular Genetics, 2809 Sensory Systems, 2804 Cellular and Molecular Neuroscience, 570 Life sciences, biology, 610 Medicine & health, 2731 Ophthalmology
Published
2009
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76. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB

Author

Zeitz, C, Gross, A K, Leifert, D, Kloeckener-Gruissem, B, McAlear, S D, Lemke, J, Neidhardt, G, Berger, W, University of Zurich, and Zeitz, C

Subjects
11124 Institute of Medical Molecular Genetics, 2809 Sensory Systems, 10039 Institute of Medical Genetics, 2804 Cellular and Molecular Neuroscience, 570 Life sciences, biology, 610 Medicine & health, 2731 Ophthalmology
Published
2008

84. Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness

Author

Neuillé, M., primary, Malaichamy, S., additional, Vadalà, M., additional, Michiels, C., additional, Condroyer, C., additional, Sachidanandam, R., additional, Srilekha, S., additional, Arokiasamy, T., additional, Letexier, M., additional, Démontant, V., additional, Sahel, J.-A., additional, Sen, P., additional, Audo, I., additional, Soumittra, N., additional, and Zeitz, C., additional

Published
2016
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85. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Author

Bujakowska, K.M., Zhang, Q, Siemiatkowska, A.M., Liu, Q., Place, E., Falk, M.J., Consugar, M., Lancelot, M.E., Antonio, A., Lonjou, C., Carpentier, W., Mohand-Said, S., Hollander, A.I. den, Cremers, F.P.M., Leroy, B.P., Gai, X., Sahel, J.A., Born, L.I. van den, Collin, R.W.J., Zeitz, C., Audo, I., Pierce, E.A., Bujakowska, K.M., Zhang, Q, Siemiatkowska, A.M., Liu, Q., Place, E., Falk, M.J., Consugar, M., Lancelot, M.E., Antonio, A., Lonjou, C., Carpentier, W., Mohand-Said, S., Hollander, A.I. den, Cremers, F.P.M., Leroy, B.P., Gai, X., Sahel, J.A., Born, L.I. van den, Collin, R.W.J., Zeitz, C., Audo, I., and Pierce, E.A.

Abstract

Item does not contain fulltext, Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group of diseases called ciliopathies. These genetic disorders can affect a variety of organs including the retina. Using whole exome sequencing in three families, we identified mutations in Intraflagellar Transport 172 Homolog [IFT172 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. Extensive functional analyses of the identified mutations in cell culture, rat retina and in zebrafish demonstrated their hypomorphic or null nature. It has recently been reported that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic and retinal abnormalities (Jeune and Mainzer-Saldino syndromes). Here, we report for the first time that mutations in this gene can also lead to an isolated form of retinal degeneration. The functional data for the mutations can partially explain milder phenotypes; however, the involvement of modifying alleles in the IFT172-associated phenotypes cannot be excluded. These findings expand the spectrum of disease associated with mutations in IFT172 and suggest that mutations in genes originally reported to be associated with syndromic ciliopathies should also be considered in subjects with non-syndromic retinal dystrophy.

Published
2015

86. A novel nonsense variant in <italic>REEP6</italic> is involved in a sporadic rod‐cone dystrophy case.

Author

Méjécase, C., Mohand‐saïd, S., El Shamieh, S., Antonio, A., Condroyer, C., Blanchard, S., Letexier, M., Saraiva, J.‐p., Sahel, J.‐a., Audo, I., and Zeitz, C.

Subjects
RETINITIS pigmentosa, NONSENSE mutation, EXOMES, NUCLEOTIDE sequencing, PATHOLOGICAL physiology
Abstract

Rod‐cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60‐year‐old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing. A novel nonsense variant, c.267G>A p.(Trp89*), was identified at a homozygous state in the proband in REEP6 gene, recently reported mutated in 7 unrelated families with RCD. Further functional studies will help to understand the physiopathology associated with REEP6 mutations that may be linked to a protein trafficking defect. [ABSTRACT FROM AUTHOR]

Published
2018
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87. Ethnic-Specific Normative Reference Values for Echocardiographic LA and LV Size, LV Mass, and Systolic Function

Author

Poppe, K.K., primary, Doughty, R.N., additional, Gardin, J.M., additional, Hobbs, F.D.R., additional, McMurray, J.J.V., additional, Nagueh, S.F., additional, Senior, R., additional, Thomas, L., additional, Whalley, G.A., additional, Aune, E., additional, Brown, A., additional, Badano, L.P., additional, Cameron, V., additional, Chadha, D.S., additional, Chahal, N., additional, Chien, K.L., additional, Daimon, M., additional, Dalen, H., additional, Detrano, R., additional, Akif Duzenli, M., additional, Ezekowitz, J., additional, de Simone, G., additional, Di Pasquale, P., additional, Fukuda, S., additional, Gill, P.S., additional, Grossman, E., additional, Kim, H.-K., additional, Kuznetsova, T., additional, Leung, N.K.W., additional, Linhart, A., additional, McDonagh, T.A., additional, McGrady, M., additional, Mill, J.G., additional, Mogelvang, R., additional, Muiesan, M.L., additional, Ng, A.C.T., additional, Ojji, D., additional, Otterstad, J.E., additional, Petrovic, D.J., additional, Poppe, K.K., additional, Prendergast, B., additional, Rietzschel, E., additional, Schirmer, H., additional, Schvartzman, P., additional, Simova, I., additional, Sliwa, K., additional, Stewart, S., additional, Squire, I.B., additional, Takeuchi, M., additional, Altman, D.G., additional, Perera, R., additional, Triggs, C.M., additional, Au Yeung, H., additional, Beans Picón, G.A., additional, Anderson, T., additional, Dyck, J., additional, Ezekowitz, J.A., additional, Chirinos, J.A., additional, De Buyzere, M.L., additional, Gillebert, T.C., additional, Segers, P., additional, Van daele, C.M., additional, Walsh, H.A., additional, Izzo, R., additional, De Luca, N., additional, Trimarco, B., additional, Goel, K., additional, Misra, A., additional, Chen, P.-C., additional, Lin, H.-J., additional, Su, T.-C., additional, Richards, A.M., additional, Troughton, R., additional, Skov Jensen, J., additional, Paterna, S., additional, Davies, M.K., additional, Davis, R.C., additional, Roalfe, A., additional, Calvert, M., additional, Freemantle, N., additional, Lip, G.Y.H., additional, Staessen, J.A., additional, Dargie, H.J., additional, Ford, I., additional, Galasko, G., additional, Lahiri, A., additional, Carrington, M., additional, Krum, H., additional, Zeitz, C., additional, Blauwet, L., additional, Moelmen Hansen, H.E., additional, Støylen, A., additional, Thorstensen, A., additional, Watanabe, H., additional, Yoshikawa, J., additional, Chambers, J.C., additional, Kooner, J., additional, Davies, J., additional, Loke, I., additional, Ng, L., additional, Leung, D.Y., additional, Arnold, L., additional, Coffey, S., additional, d'Arcy, J., additional, Hammond, C., additional, Mabbett, C., additional, Lima, C., additional, Loudon, M., additional, Pinheiro, N., additional, Reynolds, R., additional, Muraru, D., additional, Peluso, D., additional, Dal Bianco, L., additional, Petrovic, J., additional, Fuchs, F.D., additional, Katova, T., additional, Kaku, K., additional, Boyd, A., additional, Chia, E.M., additional, Angelo, L.C., additional, Pereira, A.C., additional, Krieger, J.E., additional, Rodrigues, S.L., additional, Paini, A., additional, Agabiti Rosei, E., additional, and Salvetti, M., additional

Published
2015
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98. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Author

Manes, G., Meunier, I., Avila-Fernandez, A., Banfi, S., Meur, G. Le, Zanlonghi, X., Corton, M., Simonelli, F., Brabet, P., Labesse, G., Audo, I., Mohand-Said, S., Zeitz, C., Sahel, J.A., Weber, M., Dollfus, H., Dhaenens, C.M., Allorge, D., Baere, E. de, Koenekoop, R.K., Kohl, S., Cremers, F.P.M., Hollyfield, J.G., Senechal, A., Hebrard, M., Bocquet, B., Garcia, C.A., Hamel, C.P., Manes, G., Meunier, I., Avila-Fernandez, A., Banfi, S., Meur, G. Le, Zanlonghi, X., Corton, M., Simonelli, F., Brabet, P., Labesse, G., Audo, I., Mohand-Said, S., Zeitz, C., Sahel, J.A., Weber, M., Dollfus, H., Dhaenens, C.M., Allorge, D., Baere, E. de, Koenekoop, R.K., Kohl, S., Cremers, F.P.M., Hollyfield, J.G., Senechal, A., Hebrard, M., Bocquet, B., Garcia, C.A., and Hamel, C.P.

Abstract

Item does not contain fulltext, Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AVMD cases harbor mutations in BEST1 or PRPH2, the underlying genetic cause remains unknown for many affected individuals. In a large family with autosomal-dominant VMD, gene mapping and whole-exome sequencing led to the identification of a c.713T>G (p.Leu238Arg) IMPG1 mutation, which was subsequently found in two other families with autosomal-dominant VMD and the same phenotype. IMPG1 encodes the SPACR protein, a component of the rod and cone photoreceptor extracellular matrix domains. Structural modeling indicates that the p.Leu238Arg substitution destabilizes the conserved SEA1 domain of SPACR. Screening of 144 probands who had various forms of macular dystrophy revealed three other IMPG1 mutations. Two individuals from one family affected by autosomal-recessive VMD were homozygous for the splice-site mutation c.807+1G>T, and two from another family were compound heterozygous for the mutations c.461T>C (p.Leu154Pro) and c.1519C>T (p.Arg507( *)). Most cases had a normal or moderately decreased electrooculogram Arden ratio. We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD.

Published
2013

100. Genotyping microarray for CSNB-associated genes.

Author

Zeitz, C., Labs, S., Lorenz, B., Forster, U., Uksti, J., Kroes, H.Y., Baere, E. de, Leroy, B.P., Cremers, F.P.M., Wittmer, M., Genderen, M. van, Sahel, J.A., Audo, I., Poloschek, C.M., Mohand-Said, S., Fleischhauer, J.C., Huffmeier, U., Moskova-Doumanova, V., Levin, A.V., Hamel, C.P., Leifert, D., Munier, F.L., Schorderet, D.F., Zrenner, E., Friedburg, C., Wissinger, B., Kohl, S., Berger, W., Zeitz, C., Labs, S., Lorenz, B., Forster, U., Uksti, J., Kroes, H.Y., Baere, E. de, Leroy, B.P., Cremers, F.P.M., Wittmer, M., Genderen, M. van, Sahel, J.A., Audo, I., Poloschek, C.M., Mohand-Said, S., Fleischhauer, J.C., Huffmeier, U., Moskova-Doumanova, V., Levin, A.V., Hamel, C.P., Leifert, D., Munier, F.L., Schorderet, D.F., Zrenner, E., Friedburg, C., Wissinger, B., Kohl, S., and Berger, W.

Abstract

Contains fulltext : 80582.pdf (publisher's version ) (Closed access), PURPOSE: Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches. METHODS: To overcome these challenges and to generate a time- and cost-efficient mutation screening tool, the authors developed a CSNB genotyping microarray with arrayed primer extension (APEX) technology. To cover as many mutations as possible, a comprehensive literature search was performed, and DNA samples from a cohort of patients with CSNB were first sequenced directly in known CSNB genes. Subsequently, oligonucleotides were designed representing 126 sequence variations in RHO, CABP4, CACNA1F, CACNA2D4, GNAT1, GRM6, NYX, PDE6B, and SAG and spotted on the chip. RESULTS: Direct sequencing of genes known to be associated with CSNB in the study cohort revealed 21 mutations (12 novel and 9 previously reported). The resultant microarray containing oligonucleotides, which allow to detect 126 known and novel mutations, was 100% effective in determining the expected sequence changes in all known samples assessed. In addition, investigation of 34 patients with CSNB who were previously not genotyped revealed sequence variants in 18%, of which 15% are thought to be disease-causing mutations. CONCLUSIONS: This relatively inexpensive first-pass genetic testing device for patients with a diagnosis of CSNB will improve molecular diagnostics and genetic counseling of patients and their families and gives the opportunity to analyze whether, for example, more progressive disorders such as cone or cone-rod dystrophies underlie the same gene defects.

Published
2009

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