Search

Your search keyword '"Tienhoven, Marianne"' showing total 18 results
Start Over Author "Tienhoven, Marianne"
18 results on '"Tienhoven, Marianne"'

3. Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Author

Edel, Gabriëla G, Hol, Janna A, Slot, Evelien, von der Thüsen, Jan H, van Bever, Yolande, de Jonge, Rogier C J, van Tienhoven, Marianne, Bruggenwirth, Hennie T, de Klein, Annelies, Rottier, Robbert J, Edel, Gabriëla G, Hol, Janna A, Slot, Evelien, von der Thüsen, Jan H, van Bever, Yolande, de Jonge, Rogier C J, van Tienhoven, Marianne, Bruggenwirth, Hennie T, de Klein, Annelies, and Rottier, Robbert J

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

Published
2023

4. Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Author

Haarman, Annechien E G, primary, Thiadens, Alberta A H J, additional, van Tienhoven, Marianne, additional, Loudon, Sjoukje E, additional, de Klein, J E M M Annelies, additional, Brosens, Erwin, additional, Polling, Jan Roelof, additional, van der Schoot, Vyne, additional, Bouman, Arjan, additional, Kievit, Anneke J A, additional, Hoefsloot, Lies H, additional, Klaver, Caroline C W, additional, and Verhoeven, Virginie J M, additional

Published
2022
Full Text
View/download PDF

5. Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Author

Haarman, Annechien E.G., Thiadens, Alberta A.H.J., van Tienhoven, Marianne, Loudon, Sjoukje E., de Klein, J. E.M.M.Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J.A., Hoefsloot, Lies H., Klaver, Caroline C.W., Verhoeven, Virginie J.M., Haarman, Annechien E.G., Thiadens, Alberta A.H.J., van Tienhoven, Marianne, Loudon, Sjoukje E., de Klein, J. E.M.M.Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J.A., Hoefsloot, Lies H., Klaver, Caroline C.W., and Verhoeven, Virginie J.M.

Abstract

High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. WES was performed and an eye disorder gene panel of ~500 genes was evaluated. Hundred and thirteen patients with high myopia [mean (SD) refractive error - 11.8D (5.2)] were included. Of these, 53% were children younger than 12 years of age (53%), 13.3% were aged 12-18 years and 34% were adults (aged > 18 years). Twenty-three out of 113 patients (20%) received a genetic diagnosis of which 11 patients displayed additional ocular or systemic involvement. Pathogenic variants were identified in retinal dystrophy genes (e.g. GUCY2D and CACNA1F), connective tissue disease genes (e.g. COL18A1 and COL2A1), non-syndromic high myopia genes (ARR3), ocular development genes (e.g. PAX6) and other genes (ASPH and CNNM4). In 20% of our high myopic study population, WES using an eye gene panel enabled us to diagnose the genetic cause for this disorder. Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.

Published
2022

6. Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Author

van Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., van Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A., van Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., van Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., and Kievit, Anneke J.A.

Abstract

This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤−6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary Dutch hospital. Whole-exome sequencing (WES) with a vision-related gene panel was performed, followed by a full open exome sequencing. We identified three Caucasian families with high myopia caused by three different pathogenic variants in the ARR3 gene (c.214C>T, p.Arg72*; c.767+1G>A; p.?; c.848delG, p.(Gly283fs)). Myopia was characterized by a high severity (<−8D), an early onset (<6 years), progressive nature, and a moderate to bad atropine treatment response. Remarkably, a female limited inheritance pattern was present in all three families accordant with previous reports. The frequency of a pathogenic variant in the ARR3 gene in our diagnostic WES cohort was 5%. To conclude, we identified three families with early onset, therapy-resistant, high myopia with a female-limited inheritance pattern, caused by a mutation in the ARR3 gene. The singular mode of inheritance might be explained by metabolic interference due to X-inactivation. Identification of this type of high myopia will improve prompt myopia treatment, monitoring, and genetic counseling.

Published
2022

7. Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Author

Mazijk, Ralph, primary, Haarman, Annechien E.G., additional, Hoefsloot, Lies H., additional, Polling, Jan R., additional, Tienhoven, Marianne, additional, Klaver, Caroline C.W., additional, Verhoeven, Virginie J.M., additional, Loudon, Sjoukje E., additional, Thiadens, Alberta A.H.J., additional, and Kievit, Anneke J.A., additional

Published
2022
Full Text
View/download PDF

8. First locus for primary pulmonary vein stenosis maps to chromosome 2q

Author

van de Laar, Ingrid, Wessels, Marja, Frohn-Mulder, Ingrid, Dalinghaus, Michiel, de Graaf, Bianca, van Tienhoven, Marianne, van der Moer, Paul, Husen-Ebbinge, Margreet, Lequin, Maarten, Dooijes, Dennis, de Krijger, Ronald, Oostra, Ben A., and Bertoli-Avella, Aida M.

Published
2009

9. Erratum : Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)

Author

Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, De Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, Van Eyndhoven, Winfried, Halley, Dicky J J, Van Den Hout, Mirjam C G N, Van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, De Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne Dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R., Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, Van Slegtenhorst, Marjon, Sleutels, Frank, Van Der Stoep, Nienke, Van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, Van Den Wijngaard, Arthur, Van Workum, Wilbert, Ijntema, Helger, Van Der Zwaag, Bert, Van Ijcken, Wilfred F J, Den Dunnen, Johan T., Veltman, Joris A., Hennekam, Raoul, and Cuppen, Edwin

Subjects
Published Erratum, Genetics, Genetics(clinical)
Published
2015

10. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015)

Author

Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J. J., van den Hout, Mirjam C. G. N., van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D. H., Kamps, Rick, Kockx, Christel E. M., de Koning, Bart, Kriek, Marjolein, Lekanne Dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R., Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van Ijcken, Wilfred F. J., den Dunnen, Johan T., Veltman, Joris A., Hennekam, Raoul, Cuppen, Edwin, Human genetics, NCA - Neurobiology of mental health, CCA - Cancer biology and immunology, CCA - Cancer biology, CCA - Oncogenesis, ICaR - Ischemia and repair, Amsterdam Public Health, Other Research, Public and occupational health, Graduate School, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, Amsterdam Reproduction & Development (AR&D), and Amsterdam Neuroscience

Published
2015

11. Next-generation sequencing-based genome diagnostics across clinical genetics centers : implementation choices and their effects

Author

Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A., Hennekam, Raoul, Cuppen, Edwin, Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A., Hennekam, Raoul, and Cuppen, Edwin

Published
2015

12. Erratum: Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)

Author

Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cancer, Hubrecht Institute with UMC, Brain, Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, De Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, Van Eyndhoven, Winfried, Halley, Dicky J J, Van Den Hout, Mirjam C G N, Van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, De Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne Dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R., Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, Van Slegtenhorst, Marjon, Sleutels, Frank, Van Der Stoep, Nienke, Van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, Van Den Wijngaard, Arthur, Van Workum, Wilbert, Ijntema, Helger, Van Der Zwaag, Bert, Van Ijcken, Wilfred F J, Den Dunnen, Johan T., Veltman, Joris A., Hennekam, Raoul, Cuppen, Edwin, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cancer, Hubrecht Institute with UMC, Brain, Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, De Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, Van Eyndhoven, Winfried, Halley, Dicky J J, Van Den Hout, Mirjam C G N, Van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, De Koning, Bart, Kriek, Marjolein, Deprez, Ronald Lekanne Dit, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R., Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, Van Slegtenhorst, Marjon, Sleutels, Frank, Van Der Stoep, Nienke, Van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Weiss, Janneke Marjan, Van Den Wijngaard, Arthur, Van Workum, Wilbert, Ijntema, Helger, Van Der Zwaag, Bert, Van Ijcken, Wilfred F J, Den Dunnen, Johan T., Veltman, Joris A., Hennekam, Raoul, and Cuppen, Edwin

Published
2015

13. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Author

Child Health, Genetica, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cancer, Hubrecht Institute with UMC, Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A., Hennekam, Raoul, Cuppen, Edwin, Child Health, Genetica, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Circulatory Health, Cancer, Hubrecht Institute with UMC, Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J., Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F., Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J., Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A., Hennekam, Raoul, and Cuppen, Edwin

Published
2015

14. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Author

Vrijenhoek, T, Kraaijeveld, K, Elferink, M, de Ligt, J, Kranendonk, E, Santen, G, Nijman, IJ, Butler, D, Claes, G, Costessi, A, Dorlijn, W, van Eyndhoven, W, Halley, Dicky, Van den Hout - van Vroonhoven, Mirjam, van Hove, S, Johansson, LF, Jongbloed, JDH, Kamps, R, Kockx, Christel, de Koning, B, Kriek, M, Deprez, RLD, Lunstroo, H, Mannens, M, Mook, OR, Nelen, M, Ploem, C, Rijnen, M, Saris, Jasper, Sinke, R, Sistermans, E, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, N, Tienhoven, Marianne, Vermaat, M, Vogel, M, Waisfisz, Q, Weiss, JM, van den Wijngaard, A, van Workum, W, Ijntema, H, Van der Zwaag, B, van Ijcken, Wilfred, den Dunnen, J, Veltman, JA, Hennekam, R, Cuppen, E, Vrijenhoek, T, Kraaijeveld, K, Elferink, M, de Ligt, J, Kranendonk, E, Santen, G, Nijman, IJ, Butler, D, Claes, G, Costessi, A, Dorlijn, W, van Eyndhoven, W, Halley, Dicky, Van den Hout - van Vroonhoven, Mirjam, van Hove, S, Johansson, LF, Jongbloed, JDH, Kamps, R, Kockx, Christel, de Koning, B, Kriek, M, Deprez, RLD, Lunstroo, H, Mannens, M, Mook, OR, Nelen, M, Ploem, C, Rijnen, M, Saris, Jasper, Sinke, R, Sistermans, E, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, N, Tienhoven, Marianne, Vermaat, M, Vogel, M, Waisfisz, Q, Weiss, JM, van den Wijngaard, A, van Workum, W, Ijntema, H, Van der Zwaag, B, van Ijcken, Wilfred, den Dunnen, J, Veltman, JA, Hennekam, R, and Cuppen, E

Abstract

Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands, based on genetic testing of nine pre-selected patients with cardiomyopathy. We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants. Reported pathogenic mutations were consistent for all but one patient. Of the two centers that were inconsistent in their diagnosis, one reported to have found 'no causal variant', thereby underdiagnosing this patient. The other provided an alternative diagnosis, identifying another variant as causal than the other centers. Ethical and legal analysis showed that informed consent procedures in all centers were generally adequate for diagnostic NGS applications that target a limited set of genes, but not for exome-and genome-based diagnosis. We propose changes to further improve and align these procedures, taking into account the blurring boundary between diagnostics and research, and specific counseling options for exome- and genome-based diagnostics. We conclude that alternative diagnoses may infer a certain level of 'greediness' to come to a positive diagnosis in interpreting sequencing results. Moreover, there is an increasing interdependence of clinic, diagnostics and research departments for comprehensive diagnostic genome care. Therefore, we invite clinical geneticists, physicians, researchers, bioinformatics experts and patients to reconsider their role and position in future diagnostic genome care.

Published
2015

15. NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

Author

French, Vanessa M., primary, van de Laar, Ingrid M.B.H., additional, Wessels, Marja W., additional, Rohe, Christan, additional, Roos-Hesselink, Jolien W., additional, Wang, Guangliang, additional, Frohn-Mulder, Ingrid M.E., additional, Severijnen, Lies-Anne, additional, de Graaf, Bianca M., additional, Schot, Rachel, additional, Breedveld, Guido, additional, Mientjes, Edwin, additional, van Tienhoven, Marianne, additional, Jadot, Elodie, additional, Jiang, Zhengxin, additional, Verkerk, Annemieke, additional, Swagemakers, Sigrid, additional, Venselaar, Hanka, additional, Rahimi, Zohreh, additional, Najmabadi, Hossein, additional, Meijers-Heijboer, Hanne, additional, de Graaff, Esther, additional, Helbing, Wim A., additional, Willemsen, Rob, additional, Devriendt, Koen, additional, Belmont, John W., additional, Oostra, Ben A., additional, Amack, Jeffrey D., additional, and Bertoli-Avella, Aida M., additional

Published
2012
Full Text
View/download PDF

17. Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

Author

van Mazijk R, Haarman AEG, Hoefsloot LH, Polling JR, van Tienhoven M, Klaver CCW, Verhoeven VJM, Loudon SE, Thiadens AAHJ, and Kievit AJA

Subjects
Cohort Studies, Female, Humans, Mutation, Pedigree, Exome Sequencing, Arrestins genetics, Genes, X-Linked, Myopia diagnosis, Myopia genetics
Abstract

This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤-6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary Dutch hospital. Whole-exome sequencing (WES) with a vision-related gene panel was performed, followed by a full open exome sequencing. We identified three Caucasian families with high myopia caused by three different pathogenic variants in the ARR3 gene (c.214C>T, p.Arg72*; c.767+1G>A; p.?; c.848delG, p.(Gly283fs)). Myopia was characterized by a high severity (<-8D), an early onset (<6 years), progressive nature, and a moderate to bad atropine treatment response. Remarkably, a female limited inheritance pattern was present in all three families accordant with previous reports. The frequency of a pathogenic variant in the ARR3 gene in our diagnostic WES cohort was 5%. To conclude, we identified three families with early onset, therapy-resistant, high myopia with a female-limited inheritance pattern, caused by a mutation in the ARR3 gene. The singular mode of inheritance might be explained by metabolic interference due to X-inactivation. Identification of this type of high myopia will improve prompt myopia treatment, monitoring, and genetic counseling., (© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.)

Published
2022
Full Text
View/download PDF

18. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Author

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, and Cuppen E

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results