Table 1.

Association of RPTPs and postsynaptic partners with neuropsychiatric disorders

Proteina	Gene	Locus	Mutation	Phenotype	Refs
PTPδ	PTPRD	9p23–p24.3	•Two SNPs in 5′UTR •Four CNVs (hemizygous deletion) •de novo CNV (deletion) •de novo CNV (duplication)	Restless legs syndrome ADHD ASD Bipolar disorder	[16,106] [107] [17] [108]
PTPσ	PTPRS	9p13.3	•de novo CNV (deletion, multigenic)	ASD	[17]
IL1RAPL1	IL1RAPL1	Xp22.1–p21.3	•Deletions •Nonsense mutations (Y459X, W487X) •de novo frameshift mutation (I367SfsX6) •Deletions •CNV (duplication)	Mental retardation ASD Schizophrenia	[61,109–114] [18,115] [19]
Slitrk1	SLITRK1	13q31.1	•Frameshift mutation (L422fŝ) •3′UTR mutation •Two missense mutations (R584K, S593G)	Gilles de la Tourette’s syndrome Trichotillomania	[116,117] [118]
Slitrk2	SLITRK2	Xq27.3	•Rare missense mutation (V89M)	Schizophrenia	[115]
Slitrk3	SLITRK3	3q26.1	•Altered expression of miRNAs against Slitrk3 mRNA	Autism	[119]
Slitrk6	SLITRK6	13q31.1	•CNV (deletion)	Epilepsy	[120]
TrkC	NTRK3	15q25.3	•Interstitial duplication of 15q24-26 •SNP in 5′UTR •SNP in 3′UTR •SNPs in 3′UTR (two SNPs at miRNA target site) •Five SNPs (intron) •Three SNPs (intron)	Panic disorder OCD Major depression Schizophrenia	[121–123] [123,124] [125] [126]

^aFor LAR encoded by the PTPRF gene at locus 1p34.2, we are not aware of mutations associated with neuropsychiatric disorders.