Neuropediatrics · 2022
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
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.
Soengas-Gonda Emma, Pérez de la Fuente Rubén, Arteche-López Ana, Gómez-Cano María de Los Ángeles, Quesada-Espinosa Juan Francisco, Palma Milla Carmen, Lezana Rosales José Miguel, Mayo de Andrés Sonia, Sánchez-Calvín María Teresa, Gómez-Rodríguez María José, Sierra Tomillo Olalla, Juarez Rufian Alexandra, Ramos Gomez Patricia, Herrero-Forte Clara, Fenollar-Cortés Maria, Cotarelo-Pérez Carmen, García Ron Adrián, Pérez Rodríguez Olga, Oancea-Ionescu Raluca, Moreno-García Marta
Аннотация
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.