Table 7 Common reported mutations of AFF2 and MFSD8 genes, related signs and symptoms and disorders
Gene | Common reported mutations | Signs and symptoms | Related disorders |
|---|---|---|---|
MFSD8 (NM_152778.2) | Missense and nonsense mutation, splice site mutation, frameshift, deletion | Seizures or motor impairment, mental regression, myoclonus seizure, speech impairment, loss of motor function and quadriplegia, early onset loss of vision, sleep disorders, loss of cognitive function | Ceroid lipofuscinosis, neuronal, 7 |
AFF2 (NM_002025.3) | Triple expansion of GCC to > 200 in comparison with 6–25 normal copy number of GCC | Mild-to-moderate mental retardation, learning disabilities, communication problems, attention loss, hyperactivity, autistic behaviors, metabolic and homeostatic abnormalities | Fragile XE syndrome, X-linked mental retardation associated with fragile site FRAXE, FRAXE intellectual disability |