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Table 1 Genotypic and phenotypic characteristics of monogenic conditions with ASD features

From: Autism spectrum disorder: prospects for treatment using gene therapy

Monogenic ASD Mutated gene Chromosome Protein function Autism prevalence Other characteristics
Fragile X syndrome FMR1 (encodes FMRP) X Binds and transports specific mRNAs from the nucleus to the ribosome [123] ~ 30% [124] Long/narrow face, macroorchidism, long ears and philtrum, mild to moderate intellectual disability, hyperactivity, intellectual disability (ID), seizures
Rett syndrome MECP2 X Chromatin modification [125] ~ 60% [124] Microcephaly, breathing irregularities, language deficits, repetitive/stereotyped hand movements, epilepsy, ID
MECP2 duplication syndrome MECP2 X Chromatin modification [125] ~ 100% [126] Brachycephaly, spasticity, recurrent respiratory infections, gastrointestinal hypermotility, genitourinary abnormalities, epilepsy, ID
Tuberous sclerosis TSC1 TSC2 9 16 Inhibition of translation via mTORC1 inhibition [127] ~ 50% [124] Benign tumours in multiple organs, epilepsy
Angelman syndrome UBE3A 15 Targeting of proteins for destruction via ubiquitin-tagging [41] ~ 30% [124] Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID
  1. Abbreviations: FMR1 fragile X mental retardation 1, FMRP fragile X mental retardation protein, MECP2 methyl-CpG-binding protein 2, TSC1 tuberous sclerosis 1, TSC2 tuberous sclerosis 2, UBE3A ubiquitin-protein ligase E3A