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Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. 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. Copyright © 2023 Elsevier Masson SAS. All rights reserved.


Quentin Sabbagh, Mylène Tharreau, Camille Cenni, Elodie Sanchez, Nathalie Ruiz-Pallares, Fanny Alkar, Cyril Amouroux, Stéphanie David, Olivier Prodhomme, Nicolas Leboucq, Isabelle Meunier, Didier Bessis, Alexandre Theron, Mouna Barat-Houari, Marjolaine Willems. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly. European journal of medical genetics. 2023 May;66(5):104733

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PMID: 36842471

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