Is the EGR2 gene involved in axonal Charcot-Marie-Tooth disease?
This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.
The parents of women who experience recurrent miscarriage are more likely to experience IHD. Recurrent miscarriage and IHD may have common patho-physiological pathways and genetic predispositions.