Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly

In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733

Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research