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1. Development, behaviour and autism in individuals with SMC1A variants

Author

Mulder, P.A., Huisman, S., Landlust, A.M., Moss, J., Bader, I., Balkom, I.D.C. van, Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hennekam, R.C., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Piening, S., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Vries, I.M., Wenger, T.L., Wierzba, J., SMC1A Consortium, Clinical Genetics, Pediatric surgery, APH - Quality of Care, Human genetics, Amsterdam Reproduction & Development (AR&D), Graduate School, ANS - Cellular & Molecular Mechanisms, and Paediatric Genetics

Subjects
cognition, Male, Autism Spectrum Disorder, Chromosomal Proteins, Non-Histone, CHILDREN, Cell Cycle Proteins, COMMUNICATION, Pediatrics, 0302 clinical medicine, De Lange Syndrome, Intellectual disability, Developmental and Educational Psychology, Spectrum disorder, Child, self-injurious behaviour, 05 social sciences, SELF-INJURIOUS-BEHAVIOR, Perinatology, PREVALENCE, and Child Health, Psychiatry and Mental health, Phenotype, DE-LANGE-SYNDROME, Autism spectrum disorder, Child, Preschool, Female, Psychology, 050104 developmental & child psychology, Clinical psychology, Behavioural phenotype, Adult, Down syndrome, cornelia de lange syndrome, Cornelia de Lange Syndrome, Adolescent, autism, Rett syndrome, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Journal Article, medicine, Humans, 0501 psychology and cognitive sciences, Cognitive Dysfunction, Pediatrics, Perinatology, and Child Health, rett syndrome, SPECTRUM DISORDER, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Infant, NIPBL, medicine.disease, Cross-Sectional Studies, Pediatrics, Perinatology and Child Health, Autism, Down Syndrome, Self-Injurious Behavior, 030217 neurology & neurosurgery
Abstract

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.

Published
2019
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2. Phenotypes and genotypes in individuals with SMC1A variants

Author

Huisman, S., Mulder, P.A., Redeker, E., Bader, I., Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S, Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Ramos, F.J., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Wenger, T.L., Balkom, I.D.C. van, Piening, S., Wierzba, J., Hennekam, R.C., Huisman, S., Mulder, P.A., Redeker, E., Bader, I., Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S, Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Ramos, F.J., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Wenger, T.L., Balkom, I.D.C. van, Piening, S., Wierzba, J., and Hennekam, R.C.

Abstract

Item does not contain fulltext, SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.

Published
2017

3. Phenotypes and genotypes in individuals with SMC1A variants

Author

Huisman, S.A. (Sylvia), Mulder, P.A. (Paul A.), Redeker, E.J.W. (Egbert), Bader, I. (Ingrid), Bisgaard, A.-M. (Anne-Marie), Brooks, A.S. (Alice), Cereda, A., Cinca, C. (Constanza), Clark, D. (Dinah), Cormier-Daire, V. (Valerie), Deardorff, M.A. (Matthew), Diderich, K.E.M. (Karin), Elting, M. (Mariet), Essen, J.A. (Anthonie) van, Fitzpatrick, D.R. (David R.), Gervasini, C., Gillessen-Kaesbach, G. (Gabriele), Girisha, K.M. (Katta M), Hilhorst-Hofstee, Y. (Yvonne), Hopman, S.M.J. (Saskia), Horn, D. (Denise), Isrie, M. (Mala), Jansen, S. (Sandra), Jespersgaard, C. (Cathrine), Kaiser, F.J. (Frank), Kaur, M. (Maninder), Kleefstra, T. (Tjitske), Krantz, D.H. (David), Lakeman, P. (Phillis), Landlust, A. (Annemiek), Lessel, D. (Davor), Michot, C. (Caroline), Moss, J. (Jo), Noon, S.E. (Sarah E.), Oliver, C. (Chris), Parenti, I., Pie, J. (Juan), Ramos, F.J., Rieubland, C. (Claudine), Russo, S. (Sascha), Selicorni, A. (Angelo), Tümer, Z., Vorstenbosch, R. (Rieneke), Wenger, T.L. (Tara L.), van Balkom, I. (Ingrid), Piening, S. (Sigrid), Wierzba, J. (Jolanta), Hennekam, R.C.M. (Raoul), Huisman, S.A. (Sylvia), Mulder, P.A. (Paul A.), Redeker, E.J.W. (Egbert), Bader, I. (Ingrid), Bisgaard, A.-M. (Anne-Marie), Brooks, A.S. (Alice), Cereda, A., Cinca, C. (Constanza), Clark, D. (Dinah), Cormier-Daire, V. (Valerie), Deardorff, M.A. (Matthew), Diderich, K.E.M. (Karin), Elting, M. (Mariet), Essen, J.A. (Anthonie) van, Fitzpatrick, D.R. (David R.), Gervasini, C., Gillessen-Kaesbach, G. (Gabriele), Girisha, K.M. (Katta M), Hilhorst-Hofstee, Y. (Yvonne), Hopman, S.M.J. (Saskia), Horn, D. (Denise), Isrie, M. (Mala), Jansen, S. (Sandra), Jespersgaard, C. (Cathrine), Kaiser, F.J. (Frank), Kaur, M. (Maninder), Kleefstra, T. (Tjitske), Krantz, D.H. (David), Lakeman, P. (Phillis), Landlust, A. (Annemiek), Lessel, D. (Davor), Michot, C. (Caroline), Moss, J. (Jo), Noon, S.E. (Sarah E.), Oliver, C. (Chris), Parenti, I., Pie, J. (Juan), Ramos, F.J., Rieubland, C. (Claudine), Russo, S. (Sascha), Selicorni, A. (Angelo), Tümer, Z., Vorstenbosch, R. (Rieneke), Wenger, T.L. (Tara L.), van Balkom, I. (Ingrid), Piening, S. (Sigrid), Wierzba, J. (Jolanta), and Hennekam, R.C.M. (Raoul)

Abstract

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.

Published
2017
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4. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Author

Kaiser, F.J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J.J., Fincher, C.T., Kaur, M., Bando, M., Amor, D.J., Atwal, P.S., Bahlo, M., Bowman, C.M., Bradley, J.J., Brunner, H.G., Clark, D., Campo, M. del, Donato, N. Di, Diakumis, P., Dubbs, H., Dyment, D.A., Eckhold, J., Ernst, S., Ferreira, J.C., Francey, L.J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B.D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J.M., Yntema, H.G., Innes, A.M., Kline, A.D., Krumina, Z., Lee, H. van der, Leppig, K., Lynch, S.A., Mallozzi, M.B., Mannini, L., McKee, S., Mehta, S.G., Micule, I., Mohammed, S., Moran, E., Mortier, G.R., Moser, J.A., Noon, S.E., Nozaki, N., Nunes, L., Pappas, J.G., Penney, L.S., Perez-Aytes, A., Petersen, M.B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A.E., Schindeler, K.L., Siu, V.M., Stark, Z., Strom, S.P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L.C., Baylor-Hopkins Mendelian, G., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F.J., Jackson, L.G., Shirahige, K., Pie, J., Christianson, D.W., Krantz, I.D., FitzPatrick, D.R., Deardorff, M.A., et al., Kaiser, F.J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J.J., Fincher, C.T., Kaur, M., Bando, M., Amor, D.J., Atwal, P.S., Bahlo, M., Bowman, C.M., Bradley, J.J., Brunner, H.G., Clark, D., Campo, M. del, Donato, N. Di, Diakumis, P., Dubbs, H., Dyment, D.A., Eckhold, J., Ernst, S., Ferreira, J.C., Francey, L.J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B.D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J.M., Yntema, H.G., Innes, A.M., Kline, A.D., Krumina, Z., Lee, H. van der, Leppig, K., Lynch, S.A., Mallozzi, M.B., Mannini, L., McKee, S., Mehta, S.G., Micule, I., Mohammed, S., Moran, E., Mortier, G.R., Moser, J.A., Noon, S.E., Nozaki, N., Nunes, L., Pappas, J.G., Penney, L.S., Perez-Aytes, A., Petersen, M.B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A.E., Schindeler, K.L., Siu, V.M., Stark, Z., Strom, S.P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L.C., Baylor-Hopkins Mendelian, G., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F.J., Jackson, L.G., Shirahige, K., Pie, J., Christianson, D.W., Krantz, I.D., FitzPatrick, D.R., Deardorff, M.A., and et al.

Abstract

Item does not contain fulltext, Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Published
2014

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