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1. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

Author

Szakszon, K., Lourenco, C.M., Callewaert, B.L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A.S., Vitobello, A., Patterson, W.G., Louie, R., Pinto, E.V.F., Klee, E., Kaiwar, C., Gavrilova, R.H., Agre, K.E., Jacquemont, S., Khadijé, J., Giltay, J., Gassen, K. van, Merő, G., Gerkes, E., Bon, B.W.M. van, Rinne, T.K., Pfundt, R.P., Brunner, H.G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T.B., Khelifa, M.M., Bergmann, A.K., Cueto-González, A.M., Martorell, A.C., Ramachandrappa, S., Sawyer, L.B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, Sara, Brennenstuhl, H., Schwaibolf, E.M., Battisti, G., Parmentier, B., Stevens, S.J.C., Szakszon, K., Lourenco, C.M., Callewaert, B.L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A.S., Vitobello, A., Patterson, W.G., Louie, R., Pinto, E.V.F., Klee, E., Kaiwar, C., Gavrilova, R.H., Agre, K.E., Jacquemont, S., Khadijé, J., Giltay, J., Gassen, K. van, Merő, G., Gerkes, E., Bon, B.W.M. van, Rinne, T.K., Pfundt, R.P., Brunner, H.G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T.B., Khelifa, M.M., Bergmann, A.K., Cueto-González, A.M., Martorell, A.C., Ramachandrappa, S., Sawyer, L.B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, Sara, Brennenstuhl, H., Schwaibolf, E.M., Battisti, G., Parmentier, B., and Stevens, S.J.C.

Abstract

Contains fulltext : 305177.pdf (Publisher’s version ) (Closed access), BACKGROUND: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far. METHODS: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals. RESULTS: The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. The identified mutations concerned nonsense or frameshift variants that were mainly located in the last exon of the ZNF148 gene. Heterozygous deletion including the entire ZNF148 gene was found in only one case. Most mutations occurred de novo, but were inherited from an affected parent in two families. CONCLUSION: The GDACCF syndrome is clinically diverse, and a genotype-first approach, that is, exome sequencing is recommended for establishing a genetic diagnosis rather than a phenotype-first approach. However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously suggested, we therefore recommend to replace the term 'GDACCF syndrome' with 'ZNF148-related neurodevelopmental disorder'.

Published
2024

2. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Author

Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Published
2019
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5. Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge

Author

Child Health, Genetica Klinische Genetica, Urologie Medisch Kinderen, Other research (not in main researchprogram), Tosca, L, Giltay, J C, Bouvattier, C, Klijn, A J, Bouligand, J, Lambert, A S, Lecerf, L, Josso, N, Tachdjian, G, Picard, J Y, Child Health, Genetica Klinische Genetica, Urologie Medisch Kinderen, Other research (not in main researchprogram), Tosca, L, Giltay, J C, Bouvattier, C, Klijn, A J, Bouligand, J, Lambert, A S, Lecerf, L, Josso, N, Tachdjian, G, and Picard, J Y

Published
2020

13. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Author

Sectie Morfologie/CMC, Genetica Klinische Genetica, Child Health, Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A.J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A., Sectie Morfologie/CMC, Genetica Klinische Genetica, Child Health, Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A.J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Published
2019

21. Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

Author

Volker-Touw, C. M L, de Koning, H. D., Giltay, J. C., de Kovel, C. G F, van Kempen, T. S., Oberndorff, K. M E J, Boes, M. L., van Steensel, M. A M, van Well, G. T J, Blokx, W. A M, Schalkwijk, J., Simon, A., Frenkel, J., van Gijn, M. E., Volker-Touw, C. M L, de Koning, H. D., Giltay, J. C., de Kovel, C. G F, van Kempen, T. S., Oberndorff, K. M E J, Boes, M. L., van Steensel, M. A M, van Well, G. T J, Blokx, W. A M, Schalkwijk, J., Simon, A., Frenkel, J., and van Gijn, M. E.

Published
2017

22. Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

Author

Genetica Klinische Genetica, Child Health, Genetica Groep Koeleman, Translationele immunologie, Infection & Immunity, Immuno/reuma onderzoek 2 (Boes), CTI Boes, Arts-assistenten Kinderen, Genetica Sectie Genoomdiagnostiek, Volker-Touw, C. M L, de Koning, H. D., Giltay, J. C., de Kovel, C. G F, van Kempen, T. S., Oberndorff, K. M E J, Boes, M. L., van Steensel, M. A M, van Well, G. T J, Blokx, W. A M, Schalkwijk, J., Simon, A., Frenkel, J., van Gijn, M. E., Genetica Klinische Genetica, Child Health, Genetica Groep Koeleman, Translationele immunologie, Infection & Immunity, Immuno/reuma onderzoek 2 (Boes), CTI Boes, Arts-assistenten Kinderen, Genetica Sectie Genoomdiagnostiek, Volker-Touw, C. M L, de Koning, H. D., Giltay, J. C., de Kovel, C. G F, van Kempen, T. S., Oberndorff, K. M E J, Boes, M. L., van Steensel, M. A M, van Well, G. T J, Blokx, W. A M, Schalkwijk, J., Simon, A., Frenkel, J., and van Gijn, M. E.

Published
2017

24. Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC 4‐related autoinflammatory disease, expansion of the phenotype

Author

Volker‐Touw, C.M.L., primary, Koning, H.D., additional, Giltay, J. C., additional, Kovel, C.G.F., additional, Kempen, T.S., additional, Oberndorff, K.M.E.J, additional, Boes, M.L., additional, Steensel, M.A.M., additional, Well, G.T.J., additional, Blokx, W.A.M., additional, Schalkwijk, J., additional, Simon, A., additional, Frenkel, J., additional, and Gijn, M.E., additional

Published
2016
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25. De novo variants in CNOT3cause a variable neurodevelopmental disorder

Author

Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Abstract

As a result of exome-based sequencing work performed by the DDD study, de novo variants in CNOT3have emerged as a newly recognised cause of a developmental disorder. This paper describes molecular and clinical details of 16 probands with developmental disorders and de novo CNOT3 variants. It is the first such description of the developmental phenotype associated with CNOT3variants. Eight of these cases were discovered as part of the DDD study, while the other eight were found as a result of large-scale sequencing work performed by other groups. A highly specific phenotype was not recognised in these 16 cases. The most consistent phenotypic features seen in subjects with de novo variants in CNOT3were hypotonia, relatively small stature, developmental delay, behavioural problems and intellectual disability. There is no easily recognisable facial phenotype, but some common dysmorphic features such as anteverted nares, thin upper lip and low set eyebrows were shared among some of the probands. Haploinsufficiency appears to be the most likely mechanism of action, with eight cases found to have protein-truncating variants. Of the other eight cases (all missense variants), three share an amino acid substitution at the same position which may therefore represent an important functional domain.

Published
2019
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27. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Author

Snijders Blok, C., Madsen, E., Juusola, J., Gilissen, C.F., Baralle, D., Reijnders, M.R.F., Venselaar, H., Helsmoortel, C., Cho, M.T., Hoischen, A., Vissers, L.E., Koemans, T.S., Wissink, W.M., Eichler, E.E., Romano, C, Esch, H. Van, Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., Bon, B.W. van, Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B.L., Dijck, A. Van, Innes, A.M., Racher, H., Vermeer, S., Donato, N. Di, Rump, A., Tatton-Brown, K., Parker, M.J., Henderson, A., Lynch, S.A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S, Schieving, J., Giltay, J., Gassen, K.L. van, Schuurs-Hoeijmakers, J., Tan, P.L., Pediaditakis, I., Haas, S.A., Retterer, K., Reed, P., Monaghan, K.G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M.C., Stein, Q., Strauss, K.A., Brigatti, K.W., Keating, K., Burton, B.K., Kim, K.H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A.D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K.M., Roozendaal, K. van, Brunner, H.G., Chung, W.K., Kooy, R.F., Pfundt, R., Kalscheuer, V., Mehta, S.G., Katsanis, N., Kleefstra, T., Snijders Blok, C., Madsen, E., Juusola, J., Gilissen, C.F., Baralle, D., Reijnders, M.R.F., Venselaar, H., Helsmoortel, C., Cho, M.T., Hoischen, A., Vissers, L.E., Koemans, T.S., Wissink, W.M., Eichler, E.E., Romano, C, Esch, H. Van, Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., Bon, B.W. van, Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B.L., Dijck, A. Van, Innes, A.M., Racher, H., Vermeer, S., Donato, N. Di, Rump, A., Tatton-Brown, K., Parker, M.J., Henderson, A., Lynch, S.A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S, Schieving, J., Giltay, J., Gassen, K.L. van, Schuurs-Hoeijmakers, J., Tan, P.L., Pediaditakis, I., Haas, S.A., Retterer, K., Reed, P., Monaghan, K.G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M.C., Stein, Q., Strauss, K.A., Brigatti, K.W., Keating, K., Burton, B.K., Kim, K.H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A.D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K.M., Roozendaal, K. van, Brunner, H.G., Chung, W.K., Kooy, R.F., Pfundt, R., Kalscheuer, V., Mehta, S.G., Katsanis, N., and Kleefstra, T.

Abstract

Contains fulltext : 153453.pdf (publisher's version ) (Closed access), Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common causes of ID, accounting for 1%-3% of unexplained ID in females. Although no de novo DDX3X mutations were identified in males, we present three families with segregating missense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern. In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. To explore the pathogenic mechanisms accounting for the differences in disease transmission and phenotype between affected females and affected males with DDX3X missense variants, we used canonical Wnt defects in zebrafish as a surrogate measure of DDX3X function in vivo. We demonstrate a consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway, and we further show a differential effect by gender. The differential activity possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDX3X mutations.

Published
2015

31. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Author

Van Montfrans, J, primary, Hartman, E, additional, Braun, K, additional, Hennekam, F, additional, Hak, A, additional, Nederkoorn, P, additional, Westendorp, W, additional, Bredius, R, additional, Kollen, W, additional, Scholvinck, E, additional, Legger, G, additional, Meyts, I, additional, Liston, A, additional, Lichtenbelt, K, additional, Giltay, J, additional, Van Haaften, G, additional, De Vries Simons, G, additional, Leavis, H, additional, Nierkens, S, additional, Sanders, C, additional, and Van Gijn, M, additional

Published
2015
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34. Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Author

Volker ‐ Touw, C.M.L., Koning, H.D., Giltay, J. C., Kovel, C.G.F., Kempen, T.S., Oberndorff, K.M.E.J, Boes, M.L., Steensel, M.A.M., Well, G.T.J., Blokx, W.A.M., Schalkwijk, J., Simon, A., Frenkel, J., and Gijn, M.E.

Subjects
IMMUNE response, INFLAMMATION
Abstract

A letter to the editor on a research study on Autoinflammatory Disorders (AID) characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever, is presented.

Published
2017
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35. Diploid/triploid mosaicism in dysmorphic patients

Author

Laar, I. van de, Rabelink, G., Hochstenbach, R., Tuerlings, J.H.A.M., Hoogeboom, J.J., Giltay, J., and Clinical Genetics

Subjects
Elucidation of hereditary disorders and their molecular diagnosis, fungi, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Abstract

Item does not contain fulltext Diploid/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and/or facial asymmetry, growth retardation, hypotonia, a small phallus, malformed low-set ears and micrognathia. In 75% of the cases, the blood karyotype is normal and the diagnosis can only be established after analysis of cultured fibroblasts. This chromosome abnormality may therefore be underdiagnosed. This paper focuses on the identification of mentally retarded and dysmorphic patients with diploid/triploid mosaicism. Detailed clinical description of well-defined patients may help in deciding if a skin biopsy for karyotyping of fibroblasts should be taken. Three new cases are presented, in which DNA marker analysis showed that the extra set of chromosomes in each case was derived from the mother. We present a review of 25 cases described in the literature and we discuss the inclusion of a second polar body into an early diploid embryo as the most likely mechanism.

Published
2002

36. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Author

Nillesen, W.M., Yntema, H.G., Moscarda, M., Verbeek, N.E., Wilson, L.C., Cowan, F., Schepens, M., Raas-Rothschild, A., Gafni-Weinstein, O., Zollino, M., Vijzelaar, R., Neri, G., Nelen, M.R., Bokhoven, J.H.L.M. van, Giltay, J., Kleefstra, T., Nillesen, W.M., Yntema, H.G., Moscarda, M., Verbeek, N.E., Wilson, L.C., Cowan, F., Schepens, M., Raas-Rothschild, A., Gafni-Weinstein, O., Zollino, M., Vijzelaar, R., Neri, G., Nelen, M.R., Bokhoven, J.H.L.M. van, Giltay, J., and Kleefstra, T.

Abstract

Contains fulltext : 95713.pdf (publisher's version ) (Closed access), The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the coding region of the EHMT1 gene based on the NM_ 024757.3 transcript. Because we found a mono-allelic EHMT1 transcript suggestive for haploinsufficiency of EHMT1 in two of these patients tested, we hypothesized that a deletion of regulatory elements or so far unknown coding sequences in the 5' region of the EHMT1 gene, might result in a phenotype compatible with KS. We further characterized the molecular content of deletions proximal to the transcript NM_ 024757.3 and confirmed presence of a novel predicted open reading frame comprising 27 coding exons (NM_ 024757.4). Further analysis showed that all three deletions included the presumed novel first exon of the EHMT1 gene. Subsequent testing of 75 individuals without previously detectable EHMT1 aberrations showed one additional case with a deletion comprising only this 5' part of the gene. These results have important implications for the genetic screening of KS and for studies of the functional significance of EHMT1.

Published
2011

37. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Author

D'Haene, B. (Barbara), Meire, F. (Françoise), Claerhout, I. (Ilse), Kroes, H.Y. (Hester), Plomp, A. (Astrid), Arens, Y.H.J.M. (Yvonne), Ravel, T. (Thomy) de, Casteels, I., Jaegere, S. (Sarah) de, Hooghe, S. (Sally), Wuyts, W. (Wim), Ende, J. (Jenneke) van den, Roulez, F. (Françoise), Veenstra-Knol, H.E. (Hermine), Oldenburg, R.A. (Rogier), Giltay, J. (Jacques), Verheij, J.B.G.M. (Johanna), Faber, J.-T. de, Menten, B., Paepe, A. (Anne) de, Kestelyn, P. (Philippe), Leroy, B.P. (Bart), De Baere, E. (Elfride), D'Haene, B. (Barbara), Meire, F. (Françoise), Claerhout, I. (Ilse), Kroes, H.Y. (Hester), Plomp, A. (Astrid), Arens, Y.H.J.M. (Yvonne), Ravel, T. (Thomy) de, Casteels, I., Jaegere, S. (Sarah) de, Hooghe, S. (Sally), Wuyts, W. (Wim), Ende, J. (Jenneke) van den, Roulez, F. (Françoise), Veenstra-Knol, H.E. (Hermine), Oldenburg, R.A. (Rogier), Giltay, J. (Jacques), Verheij, J.B.G.M. (Johanna), Faber, J.-T. de, Menten, B., Paepe, A. (Anne) de, Kestelyn, P. (Philippe), Leroy, B.P. (Bart), and De Baere, E. (Elfride)

Abstract

PURPOSE. Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. METHODS. The patients were examined for FOXC1 and PITX2 copy number changes and mutations using MLPA (multiplex ligation-dependent probe amplification) and direct sequencing. Subsequently, the identified copy number changes were fine-mapped using high-resolution microarrays. In the remaining mutation-negative patients, sequencing of the FOXC1 and- PITX2 3″untranslated regions (UTRs) and three other candidate genes (P32, PDP2, and FOXC2) was performed. RESULTS. Thirteen FOXC1 and eight PITX2 mutations were identified, accounting for 26% (21/80) of the cases. In addition, six FOXC1 and five PITX2 deletions were found, explaining 14% (11/80) of the cases. The smallest FOXC1 and PITX2deletions were 5.4 and 1.6 kb in size, respectively. Six patients carrying FOXC1 deletions presented with variable extraocular phenotypic features such as hearing defects (in 4/6) and mental retardation (in 2/6). No further genetic defects were found in the remaining mutation-negative patients. CONCLUSIONS. FOXC1 and PITX2 genetic defects explain 40% of our large ASD cohort. The current spectrum of intragenic FOXC1 and PITX2 mutations was extended considerably, the identified copy number changes were fine mapped, the smallest FOXC1 and PITX2 deletions reported so far were identified, and the need for dedicated copy number screening of the FOXC1 and PITX2 genomic landscape was emphasized. This study is unique in that sequence and copy number changes were screened simultaneously in both genes.

Published
2011
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38. Expanding the spectrum of FOXC1 and PITX2 mutations and copy nnumber changes in patients with anterior segment malformations.

Author

D'haene, B., Meire, F., Claerhout, I., Kroes, H.Y., Plomp, A.S., Arens, Y.H., De Ravel, T., Casteels, I., De Jaegere, S., Hooghe, S., Wuyts, W., Van den Ende, J., Roulez, F., Veenstra-Knol, H.E., Oldenburg, R.A., Giltay, J., Verheij, J.B.G.M., De Faber, J.T., Menten, B., De Paepe, A., Kestelyn, P., Leroy, B.P., De Baere, E., D'haene, B., Meire, F., Claerhout, I., Kroes, H.Y., Plomp, A.S., Arens, Y.H., De Ravel, T., Casteels, I., De Jaegere, S., Hooghe, S., Wuyts, W., Van den Ende, J., Roulez, F., Veenstra-Knol, H.E., Oldenburg, R.A., Giltay, J., Verheij, J.B.G.M., De Faber, J.T., Menten, B., De Paepe, A., Kestelyn, P., Leroy, B.P., and De Baere, E.

Published
2011

39. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Author

Neri, Giovanni, Nillesen, Wm, Yntema, Hg, Moscarda, Marco, Verbeek, Ne, Wilson, Lc, Cowan, F, Schepens, M, Raas Rothschild, A, Gafni, Weinstein, Zollino, Marcella, Vijzelaar, R, Nelen, M, Bokhoven, H, Giltay, J, Kleefstra, T., Gafni Weinstein, Zollino, Marcella (ORCID:0000-0003-4871-9519), Neri, Giovanni, Nillesen, Wm, Yntema, Hg, Moscarda, Marco, Verbeek, Ne, Wilson, Lc, Cowan, F, Schepens, M, Raas Rothschild, A, Gafni, Weinstein, Zollino, Marcella, Vijzelaar, R, Nelen, M, Bokhoven, H, Giltay, J, Kleefstra, T., Gafni Weinstein, and Zollino, Marcella (ORCID:0000-0003-4871-9519)

Abstract

The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the coding region of the EHMT1 gene based on the NM_ 024757.3 transcript. Because we found a mono-allelic EHMT1 transcript suggestive for haploinsufficiency of EHMT1 in two of these patients tested, we hypothesized that a deletion of regulatory elements or so far unknown coding sequences in the 5' region of the EHMT1 gene, might result in a phenotype compatible with KS. We further characterized the molecular content of deletions proximal to the transcript NM_ 024757.3 and confirmed presence of a novel predicted open reading frame comprising 27 coding exons (NM_ 024757.4). Further analysis showed that all three deletions included the presumed novel first exon of the EHMT1 gene. Subsequent testing of 75 individuals without previously detectable EHMT1 aberrations showed one additional case with a deletion comprising only this 5' part of the gene. These results have important implications for the genetic screening of KS and for studies of the functional significance of EHMT1.

Published
2011

40. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Author

Nillesen, Wm, Yntema, Hg, Moscarda, Marco, Verbeek, Ne, Wilson, Lc, Cowan, F, Schepens, M, Raas Rothschild, A, Gafni Weinstein, O, Zollino, Marcella, Vijzelaar, R, Neri, Giovanni, Nelen, M, Bokhoven, H, Giltay, J, Kleefstra, T., Zollino, Marcella (ORCID:0000-0003-4871-9519), Nillesen, Wm, Yntema, Hg, Moscarda, Marco, Verbeek, Ne, Wilson, Lc, Cowan, F, Schepens, M, Raas Rothschild, A, Gafni Weinstein, O, Zollino, Marcella, Vijzelaar, R, Neri, Giovanni, Nelen, M, Bokhoven, H, Giltay, J, Kleefstra, T., and Zollino, Marcella (ORCID:0000-0003-4871-9519)

Abstract

The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the coding region of the EHMT1 gene based on the NM_024757.3 transcript. Since we found a mono-allelic EHMT1 transcript suggestive for haploinsufficiency of EHMT1 in two of these patients tested, we hypothesized that a deletion of regulatory elements or so far unknown coding sequences in the 5' region of the EHMT1 gene, might result in a phenotype compatible with KS. We further characterized the molecular content of deletions proximal to the transcript NM_024757.3 and confirmed presence of a novel predicted open reading frame comprising 27 coding exons (NM_024757.4). Further analysis showed that all three deletions included the presumed novel first exon of the EHMT1 gene and subsequent testing of 75 individuals without previously detectable EHMT1 aberrations, showed one additional case with a deletion comprising only this 5' part of the gene. These results have important implications for the genetic screening of KS and for studies of the functional significance of EHMT1.

Published
2011

41. Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from ICSI treatment: a follow-up study on 75 Dutch patients

Author

Giltay, J., Kastrop, P.M., Tuerlings, J.H.A.M., Kremer, J.A.M., Tiemessen, C.H.J., Gerssen-Schoorl, K.B.J., Veen, F. van der, Vries, J. de, Hordijk, R., Hamers, G.J., Hansson, K.B., Blij-Philipsen, M. van der, Govaerts, L.C.P., Pieters, M., Madan, K., and Scheres, J.M.J.C.

Subjects
Elucidation of genetic causes of male infertility, Opheldering van genetische oorzaken van mannelijke infertiliteit, Een polikliniek voor genetische andrologie
Abstract

Item does not contain fulltext

Published
1999

42. The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1, Including a Recessive Family.

Author

Hilhorst-Hofstee, Y., Rijlaarsdam, M.E., Scholte, A.J.H.A., Swart-van den Berg, M., Versteegh, M.I., Schoot-van Velzen, I. van der, Schabitz, H.J., Bijlsma, E.K., Baars, M.J., Kerstjens-Frederikse, W.S., Giltay, J., Hamel, B.C.J., Breuning, M.H., Pals, G., Hilhorst-Hofstee, Y., Rijlaarsdam, M.E., Scholte, A.J.H.A., Swart-van den Berg, M., Versteegh, M.I., Schoot-van Velzen, I. van der, Schabitz, H.J., Bijlsma, E.K., Baars, M.J., Kerstjens-Frederikse, W.S., Giltay, J., Hamel, B.C.J., Breuning, M.H., and Pals, G.

Abstract

Contains fulltext : 89017.pdf (publisher's version ) (Closed access)

Published
2010

43. Renal development / Cystic diseases

Author

Yosypiv, I., primary, Song, R., additional, Preston, G., additional, Van Eerde, A. M., additional, Van Binsbergen, E., additional, Konijnenberg, Y., additional, Maiburg, M. C., additional, Lichtenbelt, K., additional, Nikkels, P. G. J., additional, Vd Smagt, J., additional, Renkema, K. Y., additional, Giltay, J. C., additional, De Jong, T. P. V. M., additional, Lilien, M. R., additional, Knoers, N. V. A. M., additional, Gueydan, C., additional, Serena, G., additional, Stephan, G., additional, Koesters, R., additional, Zeineb, B., additional, Laure, D., additional, Catherine, A., additional, Marie-Therese, B., additional, Gauguier, D., additional, Lelongt, B., additional, Moon, S. H., additional, Park, H. C., additional, Lee, H.-Y., additional, Hwang, J. H., additional, Jeong, J. C., additional, Park, J.-Y., additional, Lee, S. W., additional, Hwang, Y.-H., additional, Kang, K. W., additional, Ahn, C., additional, Gattone, V., additional, Carr, A., additional, Crosler-Roberts, R., additional, Wang, X., additional, Liu, Y., additional, Shen, J., additional, Wuthrich, R., additional, Serra, A., additional, Mei, C., additional, Tuta, L., additional, Botea, F., additional, Guigonis, V., additional, Rodier, N., additional, Bahans, C., additional, Decramer, S., additional, Bertholet-Thomas, A., additional, Heidet, L., additional, Eckart, P., additional, Lavocat, M.-P., additional, Vrillon, I., additional, Cloarec, S., additional, Lahoche, A., additional, Bessenay, L., additional, Louillet, F., additional, Roussey, G., additional, Rousset-Riviere, C., additional, Dunand, O., additional, Baudouin, V., additional, Nobili, F., additional, Pietrement, C., additional, De Parscau, L., additional, Gajdos, V., additional, Morin, D., additional, Laffargue, F., additional, Llanas, B., additional, Palcoux, J.-B., additional, Delrue, M.-A., additional, Dizier, E., additional, Taupiac, E., additional, Laroche, C., additional, Lacombe, B., additional, Bourthoumieu, S., additional, El-Meanawy, A., additional, Rufanova, V., additional, and Stelloh, C., additional

Published
2012
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45. POSTER VIEWING SESSION - REPRODUCTIVE (EPI) GENETICS

Author

Acar-Perk, B., primary, Weimer, J., additional, Koch, K., additional, Salmassi, A., additional, Arnold, N., additional, Mettler, L., additional, Schmutzler, A. G., additional, Ottolini, C. S., additional, Griffin, D. K., additional, Handyside, A. H., additional, Summers, M. C., additional, Thornhill, A. R., additional, Montjean, D., additional, Benkhalifa, M., additional, Cohen-Bacrie, P., additional, Siffroi, J. P., additional, Mandelbaum, J., additional, Berthaut, I., additional, Bashamboo, A., additional, Ravel, C., additional, McElreavey, K., additional, Ao, A., additional, Zhang, X. Y., additional, Yilmaz, A., additional, Chung, J. T., additional, Demirtas, E., additional, Son, W. Y., additional, Dahan, M., additional, Buckett, W., additional, Holzer, H., additional, Tan, S. L., additional, Perheentupa, A., additional, Vierula, M., additional, Jorgensen, N., additional, Skakkebaek, N. E., additional, Chantot-Bastaraud, S., additional, Toppari, J., additional, Muzii, L., additional, Magli, M. C., additional, Gioia, L., additional, Mattioli, M., additional, Ferraretti, A. P., additional, Gianaroli, L., additional, Koscinski, I., additional, Elinati, E., additional, Fossard, C., additional, Kuentz, P., additional, Kilani, Z., additional, Demirol, A., additional, Gurgan, T., additional, Schmitt, F., additional, Velez de la Calle, J., additional, Iqbal, N., additional, Louanjli, N., additional, Pasquier, M., additional, Carre-Pigeon, F., additional, Muller, J., additional, Barratt, C., additional, Viville, S., additional, Magli, C., additional, Grugnetti, C., additional, Castelletti, E., additional, Paviglianiti, B., additional, Pepas, L., additional, Braude, P., additional, Grace, J., additional, Bolton, V., additional, Khalaf, Y., additional, El-Toukhy, T., additional, Galeraud-Denis, I., additional, Bouraima, H., additional, Sibert, L., additional, Rives, N., additional, Carreau, S., additional, Janse, F., additional, de With, L. M., additional, Fauser, B. C. J. M., additional, Lambalk, C. B., additional, Laven, J. S. E., additional, Goverde, A. J., additional, Giltay, J. C., additional, De Leo, V., additional, Governini, L., additional, Quagliariello, A., additional, Margollicci, M. A., additional, Piomboni, P., additional, Luddi, A., additional, Miyamura, H., additional, Nishizawa, H., additional, Ota, S., additional, Suzuki, M., additional, Inagaki, A., additional, Egusa, H., additional, Nishiyama, S., additional, Kato, T., additional, Nakanishi, I., additional, Fujita, T., additional, Imayoshi, Y., additional, Markoff, A., additional, Yanagihara, I., additional, Udagawa, Y., additional, Kurahashi, H., additional, Alvaro Mercadal, B., additional, Imbert, R., additional, Demeestere, I., additional, De Leener, A., additional, Englert, Y., additional, Costagliola, S., additional, Delbaere, A., additional, Velilla, E., additional, Colomar, A., additional, Toro, E., additional, Chamosa, S., additional, Alvarez, J., additional, Lopez-Teijon, M., additional, Fernandez, S., additional, Hosoda, Y., additional, Hasegawa, A., additional, Morimoto, N., additional, Wakimoto, Y., additional, Ito, Y., additional, Komori, S., additional, Sati, L., additional, Zeiss, C., additional, Demir, R., additional, McGrath, J., additional, Ku, S. Y., additional, Kim, Y. J., additional, Kim, Y. Y., additional, Kim, H. J., additional, Park, K. E., additional, Kim, S. H., additional, Choi, Y. M., additional, Moon, S. Y., additional, Minor, A., additional, Chow, V., additional, Ma, S., additional, Martinez Mendez, E., additional, Gaytan, M., additional, Linan, A., additional, Pacheco, A., additional, San Celestino, M., additional, Nogales, C., additional, Ariza, M., additional, Cernuda, D., additional, Bronet, F., additional, Lendinez Ramirez, A. M., additional, Palomares, A. R., additional, Perez-Nevot, B., additional, Urraca, V., additional, Ruiz Martin, A., additional, Reche, A., additional, Ruiz Galdon, M., additional, Reyes-Engel, A., additional, Treff, N. R., additional, Tao, X., additional, Taylor, D., additional, Levy, B., additional, Ferry, K. M., additional, Scott Jr., R. T., additional, Vasan, S., additional, Acharya, K. K., additional, Vasan, B., additional, Yalaburgi, R., additional, Ganesan, K. K., additional, Darshan, S. C., additional, Neelima, C. H., additional, Deepa, P., additional, Akhilesh, B., additional, Sravanthi, D., additional, Sreelakshmi, K. S., additional, Deepti, H., additional, van Doorninck, J. H., additional, Eleveld, C., additional, van der Hoeven, M., additional, Birnie, E., additional, Steegers, E. A. P., additional, Galjaard, R. J., additional, van den Berg, I. M., additional, Fiorentino, F., additional, Spizzichino, L., additional, Bono, S., additional, Biricik, A., additional, Kokkali, G., additional, Rienzi, L., additional, Ubaldi, F. M., additional, Iammarrone, E., additional, Gordon, A., additional, Pantos, K., additional, Oitmaa, E., additional, Tammiste, A., additional, Suvi, S., additional, Punab, M., additional, Remm, M., additional, Metspalu, A., additional, Salumets, A., additional, Rodrigo, L., additional, Mir, P., additional, Cervero, A., additional, Mateu, E., additional, Mercader, A., additional, Vidal, C., additional, Giles, J., additional, Remohi, J., additional, Pellicer, A., additional, Martin, J., additional, Rubio, C., additional, Mozdarani, H., additional, Moghbeli Nejad, S., additional, Behmanesh, M., additional, Alleyasin, A., additional, Ghedir, H., additional, Ibala-Romdhane, S., additional, Mamai, O., additional, Brahem, S., additional, Elghezal, H., additional, Ajina, M., additional, Gribaa, M., additional, Saad, A., additional, Martinez, M. C., additional, Peinado, V., additional, Milan, M., additional, Al-Asmar, N., additional, Buendia, P., additional, Delgado, A., additional, Escrich, L., additional, Amorocho, B., additional, Simon, C., additional, Petrussa, L., additional, Van de Velde, H., additional, De Munck, N., additional, De Rycke, M., additional, Altmae, S., additional, Martinez-Conejero, J. A., additional, Esteban, F. J., additional, Ruiz-Alonso, M., additional, Stavreus-Evers, A., additional, Horcajadas, J. A., additional, Bug, B., additional, Raabe-Meyer, G., additional, Bender, U., additional, Zimmer, J., additional, Schulze, B., additional, Vogt, P. H., additional, Laisk, T., additional, Peters, M., additional, Grabar, V., additional, Feskov, A., additional, Zhilkova, E., additional, Sugawara, N., additional, Maeda, M., additional, Seki, T., additional, Manome, T., additional, Nagai, R., additional, Araki, Y., additional, Georgiou, I., additional, Lazaros, L., additional, Xita, N., additional, Chatzikyriakidou, A., additional, Kaponis, A., additional, Grigoriadis, N., additional, Hatzi, E., additional, Grigoriadis, I., additional, Sofikitis, N., additional, Zikopoulos, K., additional, Gunn, M., additional, Brezina, P. R., additional, Benner, A., additional, Du, L., additional, Kearns, W. G., additional, Shen, X., additional, Zhou, C., additional, Xu, Y., additional, Zhong, Y., additional, Zeng, Y., additional, Zhuang, G., additional, Gunn, M. C., additional, Richter, K., additional, Andreeva, P., additional, Dimitrov, I., additional, Konovalova, M., additional, Kyurkchiev, S., additional, Shterev, A., additional, Daser, A., additional, Day, E., additional, Turley, H., additional, Immesberger, A., additional, Haaf, T., additional, Hahn, T., additional, Dear, P. H., additional, Schorsch, M., additional, Don, J., additional, Golan, N., additional, Eldar, T., additional, and Yaverboim, R., additional

Published
2011
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46. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

Author

Giltay, J., Wittebol-Post, D., Bokhoven, J.H.L.M. van, Kastrop, P.M., Lock, M.T.W.T., Giltay, J., Wittebol-Post, D., Bokhoven, J.H.L.M. van, Kastrop, P.M., and Lock, M.T.W.T.

Abstract

Item does not contain fulltext, This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.

Published
2002

47. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.

Author

Giltay, J., Ausems, M.G.E.M., Seumeren, I. van, Zewald, R.A., Sinke, R.J., Faas, B.H.W., Vroede, M.A. de, Giltay, J., Ausems, M.G.E.M., Seumeren, I. van, Zewald, R.A., Sinke, R.J., Faas, B.H.W., and Vroede, M.A. de

Abstract

Item does not contain fulltext, A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to contain a gonadoblastoma. DNA analysis showed that the proposed critical region of the gonadoblastoma locus on the Y chromosome was contained within the patient's idic (Y). Conclusion. The case described here shows that patients with 45,X/46,X, isodicentric (Yp) mosaicism and a female phenotype (1) can lack external virilisation but still have a gonadoblastoma and (2) do not necessarily have Turner stigmata but can present with only short stature. This case also underlines the importance of karyotyping patients with unexplained short stature to enable gonadectomy if Y-derived material is detected.

Published
2001

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