August 5, 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

Gianluca Contrò 1,Alessia Micalizzi 2,Sara Giangiobbe 3,Stefano Giuseppe Caraffi 1OrcID,Roberta Zuntini 1,Simonetta Rosato 1,Marzia Pollazzon 1OrcID,Alessandra Terracciano 2,Manuela Napoli 4,Susanna Rizzi 5,Grazia Gabriella Salerno 5,Francesca Clementina Radio 6OrcID,Marcello Niceta 6,Elena Parrini 7,Carlo Fusco 5,Giancarlo Gargano 8,Renzo Guerrini 7,Marco Tartaglia 6OrcID,Antonio Novelli 2OrcID,Orsetta Zuffardi 9 andLivia Garavelli 1,* Academic Editor: Laura Crisponi

Lissencephaly, in a literal sense “smooth brain”, is a state described by reduced gyral and sulcal development of the cerebral surface. Subcortical band heterotopia (SBH), which describes the less severe end of lissencephaly, consists of a band of heterotopic neurons found under the cortex and divided by a thin layer of white matter. Di Donato et al. in 2017 examined the neuroradiological models of lissencephaly and suggested a categorization based on its topographic organization (e.g., anterior, posterior, and diffuse). 

Contrò, et al. (2021, PMID: 34440382) studied a 3-year-old boy with lissencephaly with subcortical band heterotopia. After the NGS gene panel came back negative, the authors carried out a trio-based exome sequencing (ES). Geneyx Analysis, discovered a heterozygous pathogenic c.232+1del variant in the CEP85L gene. The variant had not been formerly noted in biomedical publications, including the Human Gene Mutation Database (HGMD), or the reference population database gnomAD v2.1.1. 

By comparing the phenotypic and molecular results with those of other available cases, Geneyx enabled further characterization of the clinical and radiological features of posterior lissencephaly driven by variants in CEP85L. Additional data could be helpful to better clarify CEP85L-related lissencephaly, which could come from the re-analysis of the ES information of patients with radiological presentations of lissencephaly. With the information derived from Geneyx and other data, the authors emphasized the significance of adding this gene to the lissencephaly diagnostic panels. 

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