Motazacker et al. (2007) reviewed phenotypic features of the family described by Najmabadi et al. (2007). Mental retardation in affected members ranged from mild to severe. They noted that the patients did not have neurologic problems, congenital malformations, ... Motazacker et al. (2007) reviewed phenotypic features of the family described by Najmabadi et al. (2007). Mental retardation in affected members ranged from mild to severe. They noted that the patients did not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference were normal in all patients. MRI scan, performed in 1 patient, revealed no morphologic abnormalities.
Motazacker et al. (2007) stated that the MRT6 locus contains 25 annotated genes, of which 8 were considered to be plausible candidate genes for mental retardation and were selected for mutation screening. In DNA from patients from the ... Motazacker et al. (2007) stated that the MRT6 locus contains 25 annotated genes, of which 8 were considered to be plausible candidate genes for mental retardation and were selected for mutation screening. In DNA from patients from the Iranian family (M097) studied by Najmabadi et al. (2007), Motazacker et al. (2007) detected a complex mutation in the GRIK2 gene (138244.0001).