Expanding the phenotypic spectrum of Alazami Syndrome: two unrelated Spanish families.
Emma Soengas GondaRubén Pérez de la FuenteAna Arteche-LópezMaria de Los Ángeles Gomez-CanoJuan Francisco Quesada-EspinosaCarmen Palma-MillaJose Miguel Lezana RosalesSonia Mayo de AndrésMaria Teresa Sanchez CalvinMaria Jose Gomez RodriguezOlalla Sierra TomilloAlexandra Juarez RufianPatricia Ramos GonzálezClara Herrero ForteMaria Del Mar Fenollar CortésMaria Carmen Cotarelo PérezAdrian Garcia RonOlga Perez RodríguezRaluca Oancea IonescuMarta Moreno GarcíaPublished in: Neuropediatrics (2022)
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. 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.