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 |