Clinical genetics · 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
СтатьяНазвание и аннотация: Перевод в очереди
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Bergès Camille, Sauvestre Clément, Naudion Sophie, Delorme Catherine Vincent, Smol Thomas, Rama Mélanie, Moortgat Stephanie, Maystadt Isabelle, Kersseboom Rogier, Wilke Martina, Barakat Tahsin Stefan, Vial Yoann, Perrin Laurence, Passemard Sandrine, Ahmad Farooq, Umair Muhammad, Haack Tobias, Grimmel Mona, Kuechler Alma, Slavotinek Anne, Devine Patrick, Hodoglugil Ugur, Zafar Faisal, Afzal Erum, Dudding-Byth Tracy, Jouret Guillaume, Herissant Lucas, Efthymiou Stephanie, Houlden Henry, Legendre Marine, Michaud Vincent
Аннотация
Pseudouridylation is a frequent post-transcriptional modification resulting in uridine isomerization in 5-ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base-stacking and the creation of hydrogen bonds. Recently, papers reported that variants in PUS7 in 16 patients were involved in marked growth retardation with microcephaly, associated with intellectual disability and behavioral issues such as self-injurious and aggressive behavior. Through Genematcher, we initiated a collaboration to describe a new cohort of PUS7 patients. In total, we report 13 new cases carrying 15 new variants. This cohort further expands the phenotypic spectrum associated with PUS7-related syndromes, allowing for improved genotype-phenotype correlations and ultimately better healthcare for affected individuals and their families.