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Table 7 Common reported mutations of AFF2 and MFSD8 genes, related signs and symptoms and disorders

From: Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Gene Common reported mutations Signs and symptoms Related disorders
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
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
  1. FRAXE fragile XE syndrome