CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature

ConclusionThis case report adds to the limited body of literature that exists on this terminal deletion at 3p26.3 that involves CHL1  gene, and supports prior proposals of an emergingCHL1 microdeletion syndrome that results in language and cognitive delays. Further studies are needed to understand the degree of phenotypic heterogeneity associated with CHL1 gene deletion and whether the size of the deletion or presence of additional copy number variants (CNVs) which were seen in ot her case reports help predict the expected phenotype for a patient.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research