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Article

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

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Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
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Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
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Clinical Genomics, Medical Genetics Service, San Raffaele Hospital, 20132 Milan, Italy
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Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
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Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
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Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
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Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children’s Hospital, University of Florence, 50139 Florence, Italy
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Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
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Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Laura Crisponi
Genes 2021, 12(8), 1208; https://doi.org/10.3390/genes12081208
Received: 24 May 2021 / Revised: 30 July 2021 / Accepted: 3 August 2021 / Published: 5 August 2021
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. Variants in CEP85L, encoding a protein involved in the regulation of neuronal migration, have been recently described as causative of lissencephaly with a posterior-prevalent involvement of the cerebral cortex and an autosomal dominant pattern of inheritance. Here, we describe a 3-year-old boy with slightly delayed psychomotor development and mild dysmorphic features, including bitemporal narrowing, protruding ears with up-lifted lobes and posterior plagiocephaly. Brain MRI at birth identified type 1 lissencephaly, prevalently in the temporo–occipito–parietal regions of both hemispheres with “double-cortex” (Dobyns’ 1–2 degree) periventricular band alterations. Whole-exome sequencing revealed a previously unreported de novo pathogenic variant in the CEP85L gene (NM_001042475.3:c.232+1del). Only 20 patients have been reported as carriers of pathogenic CEP85L variants to date. They show lissencephaly with prevalent posterior involvement, variable cognitive deficits and epilepsy. The present case report indicates the clinical variability associated with CEP85L variants that are not invariantly associated with severe phenotypes and poor outcome, and underscores the importance of including this gene in diagnostic panels for lissencephaly. View Full-Text
Keywords: CEP85L; lissencephaly 10; posterior lissencephaly; double-cortex; abnormalities of cortical development; whole exome sequencing; donor splice site CEP85L; lissencephaly 10; posterior lissencephaly; double-cortex; abnormalities of cortical development; whole exome sequencing; donor splice site
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MDPI and ACS Style

Contrò, G.; Micalizzi, A.; Giangiobbe, S.; Caraffi, S.G.; Zuntini, R.; Rosato, S.; Pollazzon, M.; Terracciano, A.; Napoli, M.; Rizzi, S.; Salerno, G.G.; Radio, F.C.; Niceta, M.; Parrini, E.; Fusco, C.; Gargano, G.; Guerrini, R.; Tartaglia, M.; Novelli, A.; Zuffardi, O.; Garavelli, L. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes 2021, 12, 1208. https://doi.org/10.3390/genes12081208

AMA Style

Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes. 2021; 12(8):1208. https://doi.org/10.3390/genes12081208

Chicago/Turabian Style

Contrò, Gianluca, Alessia Micalizzi, Sara Giangiobbe, Stefano G. Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia G. Salerno, Francesca C. Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, and Livia Garavelli. 2021. "Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum" Genes 12, no. 8: 1208. https://doi.org/10.3390/genes12081208

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