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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
dc.contributor.author | Isidor B. | |
dc.contributor.author | Ebstein F. | |
dc.contributor.author | Hurst A. | |
dc.contributor.author | Vincent M. | |
dc.contributor.author | Bader I. | |
dc.contributor.author | Rudy N.L. | |
dc.contributor.author | Cogne B. | |
dc.contributor.author | Mayr J. | |
dc.contributor.author | Brehm A. | |
dc.contributor.author | Bupp C. | |
dc.contributor.author | Warren K. | |
dc.contributor.author | Bacino C.A. | |
dc.contributor.author | Gerard A. | |
dc.contributor.author | Ranells J.D. | |
dc.contributor.author | Metcalfe K.A. | |
dc.contributor.author | van Bever Y. | |
dc.contributor.author | Jiang Y.-H. | |
dc.contributor.author | Mendelssohn B.A. | |
dc.contributor.author | Cope H. | |
dc.contributor.author | Rosenfeld J.A. | |
dc.contributor.author | Blackburn P.R. | |
dc.contributor.author | Goodenberger M.L. | |
dc.contributor.author | Kearney H.M. | |
dc.contributor.author | Kennedy J. | |
dc.contributor.author | Scurr I. | |
dc.contributor.author | Szczaluba K. | |
dc.contributor.author | Ploski R. | |
dc.contributor.author | de Saint Martin A. | |
dc.contributor.author | Alembik Y. | |
dc.contributor.author | Piton A. | |
dc.contributor.author | Bruel A.-L. | |
dc.contributor.author | Thauvin-Robinet C. | |
dc.contributor.author | Strong A. | |
dc.contributor.author | Diderich K.E.M. | |
dc.contributor.author | Bourgeois D. | |
dc.contributor.author | Dahan K. | |
dc.contributor.author | Vignard V. | |
dc.contributor.author | Bonneau D. | |
dc.contributor.author | Colin E. | |
dc.contributor.author | Barth M. | |
dc.contributor.author | Camby C. | |
dc.contributor.author | Baujat G. | |
dc.contributor.author | Briceño I. | |
dc.contributor.author | Gómez A. | |
dc.contributor.author | Deb W. | |
dc.contributor.author | Conrad S. | |
dc.contributor.author | Besnard T. | |
dc.contributor.author | Bézieau S. | |
dc.contributor.author | Krüger E. | |
dc.contributor.author | Küry S. | |
dc.contributor.author | Stankiewicz P. | |
dc.date.accessioned | 2024-05-20T19:13:24Z | |
dc.date.available | 2024-05-20T19:13:24Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N.L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., Warren, K., Bacino, C.A., Gerard, A., Ranells, J.D., Metcalfe, K.A., van Bever, Y., Jiang, Y.-H., Mendelssohn, B.A., Cope, H., Rosenfeld, J.A., Blackburn, P.R., Goodenberger, M.L., Kearney, H.M., Kennedy, J., Scurr, I., Szczaluba, K., Ploski, R., de Saint Martin, A., Alembik, Y., Piton, A., Bruel, A.-L., Thauvin-Robinet, C., Strong, A., Diderich, K.E.M., Bourgeois, D., Dahan, K., Vignard, V., Bonneau, D., Colin, E., Barth, M., Camby, C., Baujat, G., Briceño, I., Gómez, A., Deb, W., Conrad, S., Besnard, T., Bézieau, S., Krüger, E., Küry, S., Stankiewicz, P. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype (2022) Genetics in Medicine, 24 (1), pp. 179-191 | es_CO |
dc.identifier.issn | 10983600 | |
dc.identifier.other | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85122377883&doi=10.1016%2fj.gim.2021.09.005&partnerID=40&md5=613a289df9d6c08f673e5d48e6e8942c | |
dc.identifier.uri | http://hdl.handle.net/10818/60077 | |
dc.description | 12 páginas | es_CO |
dc.description.abstract | Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS. Methods: We report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status. Results: The expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes. Conclusion: We refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature. © 2021 American College of Medical Genetics and Genomics | en |
dc.format | application/pdf | es_CO |
dc.language.iso | eng | es_CO |
dc.publisher | Genetics in Medicine | es_CO |
dc.relation.ispartofseries | Genetics in Medicine Vol. 24 N° 1 p. 179-191 | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.source | Universidad de La Sabana | es_CO |
dc.source | Intellectum Repositorio Universidad de La Sabana | es_CO |
dc.subject.other | Intellectual disability | en |
dc.subject.other | Interferon | en |
dc.subject.other | Proteasome | en |
dc.subject.other | PSMD12 | en |
dc.subject.other | Thumb | en |
dc.title | Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype | en |
dc.type | journal article | es_CO |
dc.type.hasVersion | publishedVersion | es_CO |
dc.rights.accessRights | openAccess | es_CO |
dc.identifier.doi | 10.1016/j.gim.2021.09.005 |
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Facultad de Medicina [958]