Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway. Only a few patients with CCND2 mutations have been reported to date. We describe an individual harboring a de novo variant in CCND2 undergoing neuroradiological evaluation including diffusion tensor imaging (DTI). The individual presented with a severe brain malformation extending to both brainstem and cerebellum with hypomyelination not previously reported in CCND2-related disorder. Severe hypoplasia and white matter disorganization were confirmed by DTI. This report expands the phenotypic spectrum of the disorder due to CCND2 variants. © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Citation

Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D'Amico, Nicola Brunetti-Pierri. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Molecular genetics & genomic medicine. 2019 Jun;7(6):e708

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PMID: 31056854

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