Table III:
Genes causing prevalent and well-studied single-gene ID disorders with behavioral and cognitive overlap with ADHD and/or ASD.
Gene | Protein | Chr position | Associated ID disorder | Reported rate of ASD-related phenotype | Reported rate of ADHD-related phenotype |
---|---|---|---|---|---|
FMR1 | Fragile X mental retardation protein | Xq27 | Fragile X syndrome | 30% [Hagerman and others 2009] | 59% [Sullivan and others 2006] |
NF1 | Neurofibromin | 17q11 | Neurofibromatosis type 1 | 40% [Walsh and others 2013] | 38% [Hyman and others 2005] |
TSC1 | Hamartin | 9q34 | Tuberous sclerosis complex | 50% [Prather and de Vries 2004] | 30-60% [D’Agati and others 2009] |
TSC2 | Tuberin | 16p13 | |||
MECP2 | Methyl-CpG-binding protein 2 | Xq28 | Rett syndrome | 42-58% [Wulffaert and others 2009] | unknown |
CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C | 12p13 | Timothy syndrome | 60% [Splawski and others 2004] | unknown |
Phenotypic overlap as adapted from [Vorstman and Ophoff 2013]; ID= intellectual disability; ASD= Autism spectrum disorder; ADHD= Attention deficit/hyperactivity disorder; Chr= chromosome; no imaging genetics studies found.