Description of Phenotypic Heterogeneity in a < b > < i > GJC2 < /i > < /b > -Related Family and Literature Review

Discussion: Up to now, correlation between HSP andGJC2 variants has been reported once. Here, the second case of SPG44 was identified that emphasizes onGJC2 as a HSP-causing gene. So, the screening ofGJC2 in patients with HSP or HSP-like phenotypes especially with hypomyelination in their brain MRI is recommended. Also, for the first time, intrafamilial phenotypic heterogeneity for “two distinctGJC2-related phenotypes: HLD2 and HSP ” was reported. Such intrafamilial phenotypic heterogeneity forGJC2 can emphasize on the shared pathophysiology of these disorders.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research