Медицинская библиотека · European journal of human genetics : EJHG · 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Schmid Cosima M, Gregor Anne, Ruiz Anna, Manso Bazús Carmen, Herman Isabella, Ammouri Farah, Kotzaeridou Urania, McNiven Vanda, Dupuis Lucie, Steindl Katharina, Begemann Anaïs, Rauch Anita, Suter Aude-Annick, Isidor Bertrand, Mercier Sandra, Nizon Mathilde, Cogné Benjamin, Deb Wallid, Besnard Thomas, Haack Tobias B, Falb Ruth J, Müller Amelie J, Linden Tobias, Haldeman-Englert Chad R, Ockeloen Charlotte W, Mattioli Francesca, Reymond Alexandre, Ibrahim Nazia, Naz Shagufta, Lacaze Elodie, Bassetti Jennifer A, Hoefele Julia, Brunet Theresa, Riedhammer Korbinian M, Elloumi Houda Z, Person Richard, Zou Fanggeng, Kahle Juliette J, Cremer Kirsten, Schmidt Axel, Delrue Marie-Ange, Almeida Pedro M, Ramos Fabiana, Srivastava Siddharth, Quinlan Aisling, Robertson Stephen, Manka Eva, Kuechler Alma, Spranger Stephanie, Nowaczyk Malgorzata J M, Elshafie Reem M, Alsharhan Hind, Hillman Paul R, Dunnington Leslie A, Braakman Hilde M H, McKee Shane, Moresco Angelica, Ignat Andrea-Diana, Newbury-Ecob Ruth, Banneau Guillaume, Patat Olivier, Kuerbitz Jeffrey, Rzucidlo Susan, Sell Susan S, Gordon Patricia, Schuhmann Sarah, Reis André, Halleb Yosra, Stoeva Radka, Keren Boris, Al Masseri Zainab, Tümer Zeynep, Hammer-Hansen Sophia, Krüger Sølyst Sofus, Steigerwald Connolly G, Abreu Nicolas J, Faust Helene, Müller-Nedebock Amica, Tran Mau-Them Frédéric, Sticht Heinrich, Zweier Christiane

СтатьяПеревод в очереди

Аннотация

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder. The molecular spectrum comprises 25 truncating, eight splice-site and five missense variants. While all other truncating variants were classified as pathogenic/likely pathogenic, significance of one C-terminal truncating variant, one splice-site variant and the missense variants remained unclear. Three missense variants in the CTD-interacting domain of SCAF4 were predicted to destabilize the domain. Twenty-three variants occurred de novo, and variants were inherited in 13 cases. Frequent clinical findings were mild developmental delay with speech impairment, seizures, and skeletal abnormalities such as clubfoot, scoliosis or hip dysplasia. Cognitive abilities ranged from normal IQ to severe intellectual disability (ID), with borderline to mild ID in the majority of individuals. Our study confirms the role of SCAF4 variants in neurodevelopmental disorders and further delineates the associated clinical phenotype.

Для цитирования: Schmid Cosima M, Gregor Anne, Ruiz Anna, Manso Bazús Carmen, Herman Isabella, Ammouri Farah, Kotzaeridou Urania, McNiven Vanda, Dupuis Lucie, Steindl Katharina, Begemann Anaïs, Rauch Anita, Suter Aude-Annick, Isidor Bertrand, Mercier Sandra, Nizon Mathilde, Cogné Benjamin, Deb Wallid, Besnard Thomas, Haack Tobias B, Falb Ruth J, Müller Amelie J, Linden Tobias, Haldeman-Englert Chad R, Ockeloen Charlotte W, Mattioli Francesca, Reymond Alexandre, Ibrahim Nazia, Naz Shagufta, Lacaze Elodie, Bassetti Jennifer A, Hoefele Julia, Brunet Theresa, Riedhammer Korbinian M, Elloumi Houda Z, Person Richard, Zou Fanggeng, Kahle Juliette J, Cremer Kirsten, Schmidt Axel, Delrue Marie-Ange, Almeida Pedro M, Ramos Fabiana, Srivastava Siddharth, Quinlan Aisling, Robertson Stephen, Manka Eva, Kuechler Alma, Spranger Stephanie, Nowaczyk Malgorzata J M, Elshafie Reem M, Alsharhan Hind, Hillman Paul R, Dunnington Leslie A, Braakman Hilde M H, McKee Shane, Moresco Angelica, Ignat Andrea-Diana, Newbury-Ecob Ruth, Banneau Guillaume, Patat Olivier, Kuerbitz Jeffrey, Rzucidlo Susan, Sell Susan S, Gordon Patricia, Schuhmann Sarah, Reis André, Halleb Yosra, Stoeva Radka, Keren Boris, Al Masseri Zainab, Tümer Zeynep, Hammer-Hansen Sophia, Krüger Sølyst Sofus, Steigerwald Connolly G, Abreu Nicolas J, Faust Helene, Müller-Nedebock Amica, Tran Mau-Them Frédéric, Sticht Heinrich, Zweier Christiane. Further delineation of the SCAF4-associated neurodevelopmental disorder.. European journal of human genetics : EJHG. 2024. DOI: 10.1038/s41431-024-01760-2.

Предметные рубрики MeSH

Humans Male Female Neurodevelopmental Disorders Child, Preschool Child Adolescent Phenotype Adult Mutation, Missense Infant

Подготовка и перевод публикации

Обработка статьи · этапы, ошибки и управление

Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.

Аннотация

Предметные рубрики MeSH

Ошибки и ограничения