Functional Characterization of Variants in <i>LARP7</i>: Report of Three New Individuals With Alazami Syndrome and a Literature Review.

ABSTRACT: Introduction: Biallelic pathogenic variants in LARP7 result in Alazami syndrome, which is characterized by global developmental delay, cognitive dysfunction, and dysmorphic features. Cardiac and skeletal phenotypes are reported in about 30% of individuals. We report three new individuals with Alazami syndrome and functional characterization of LARP7 variants in this study. Materials and Methods: We reviewed electronic patient charts. We applied the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant classification algorithms. We performed a 3D protein modeling tool for in silico prediction and functional characterization of LARP7 variants using qPCR gene expression experiments. We reviewed the medical lite

SUBMITTER: Ambrose A 

PROVIDER: S-EPMC12178771 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature