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.