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Quantitative Phenotype Morbidity Description of SATB2 - Associated Syndrome

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dc.contributor.authorZarate, Yuri
dc.contributor.authorBosanko, Katherine
dc.contributor.authorKannan, Amrit
dc.contributor.authorThomason, Ashlen
dc.contributor.authorNutt, Beth
dc.contributor.authorKumar, Nihit
dc.contributor.authorSimmons, Kirt
dc.contributor.authorHiegert, Aaron
dc.contributor.authorHartzell, Larry
dc.contributor.authorJohnson, Adam
dc.contributor.authorPrater, Tabitha
dc.contributor.authorPérez Palma, Eduardo
dc.contributor.authorBrünger, Tobias
dc.contributor.authorStefanski, Arthur
dc.contributor.authorLal, Dennis
dc.contributor.authorCaffrey, Aisling
dc.date.accessioned2024-06-03T16:45:44Z
dc.date.available2024-06-03T16:45:44Z
dc.date.issued2023
dc.description.abstractCharacterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been documented previously in large series. Using data from the SAS registry, we present the SAS severity score, a comprehensive scoring rubric that encompasses 15 different individual neurodevelopmental and systemic features. Higher (more severe) systemic and total (sum of neurodevelopmental and systemic scores) scores were seen for null variants located after amino acid 350 (the start of the CUT1 domain), the recurrent missense Arg389Cys variant (n=10), intragenic deletions, and larger chromosomal deletions. The Arg389Cys variant had the highest cognitive, verbal, and sialorrhea severity scores, while large chromosomal deletions had the highest expressive, ambulation, palate, feeding and growth, neurodevelopmental, and total scores. Missense variants not located in the CUT1 or CUT2 domain scored lower in several subcategories. We conclude that the SAS severity score allows quantitative phenotype morbidity description that can be used in routine clinical counseling. Further refinement and validation of the SAS severity score are expected over time. All data from this project can be interactively explored in a new portal.
dc.description.versionPublicada
dc.identifier.citationZarate, Y. A., Bosanko, K., Kannan, A., Thomason, A., Nutt, B., Kumar, N., Simmons, K., Hiegert, A., Hartzell, L., Johnson, A., Prater, T., Pérez-Palma, E., Brünger, T., Stefanski, A., Lal, D., & Caffrey, A. R. (2023). Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome. Human Mutation, 2023, 1–9. https://doi.org/10.1155/2023/8200176
dc.identifier.doihttps://doi.org/10.1155/2023/8200176
dc.identifier.urihttps://hdl.handle.net/11447/8994
dc.language.isoen
dc.titleQuantitative Phenotype Morbidity Description of SATB2 - Associated Syndrome
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceHuman Mutation
dspace.entity.typePublication
relation.isAuthorOfPublication31623ebd-7791-4ceb-b04c-c69d7496b40f
relation.isAuthorOfPublication.latestForDiscovery31623ebd-7791-4ceb-b04c-c69d7496b40f

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