Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

Neuropediatrics DOI: 10.1055/a-1947-8411Alazami 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. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - December 23, 2022 Category: Neurology Authors: Soengas-Gonda, Emma P érez de la Fuente, Rubén Arteche-L ópez, Ana G ómez-Cano, María de los Ángeles Quesada-Espinosa, Juan Francisco Palma Milla, Carmen Lezana Rosales, Jos é Miguel Mayo de Andr és, Sonia S ánchez-Calvín, María Teresa G ómez- Tags: Original Article Source Type: research