Patient ID | Gene | Mutation | Zygosity | Inheritance | Clinical relevance | Polyphen2 |
---|---|---|---|---|---|---|
Patients with ASD and mtDNA deletion (N = 10) | ||||||
P1 | FOXP2 | A280T | HET | AD | Uncertain significance | 0.99 |
P2 | RAI1 | V1565M | HET | AD | Uncertain significance | 0.845 |
AUTS2 | L433P | HET | AD | Uncertain significance | 1 | |
P3 | TSC2 | K22N | HET | AD | Uncertain significance | 1 |
CHD7 | Fs | HET | AD | Pathogenic [38] | n/d | |
P4 | RELN | L496P | HET | AD/AR | Uncertain significance | 0.98 |
KATNAL2 | R1382S | HET | AR/AD | Uncertain significance | 0.99 | |
P6 | ZNF804A | A1108T | HET | n/d | Uncertain significance | 1 |
P7 | RAI1 | G1070R | HET | AD | Uncertain significance | 0.99 |
P8 | DHCR7 | W119* | HET | AR | Pathogenic | n/d |
NHS | R409Q | HET | XLD | Uncertain significance | 1 | |
P10 | PDE10A | P477A | HOM | AR/AD | Uncertain significance | 0.99 |
Patients with ASD and without mtDNA deletion (N = 7) | ||||||
C-ASD1 | SHANK2 | A1129P | HET | n/d | Uncertain significance | 0.86 |
C-ASD2 | PON3 | S820N | HET | n/d | Uncertain significance | 1 |
NRXN1 | S820N | HET | AR | Uncertain significance | 0 | |
CNTNAP2 | Y716C | HET | n/d | Uncertain significance | 0.9 | |
C-ASD3 | SCN2A | L577I | HET | AD | Uncertain significance | 0 |
C-ASD4 | NLGN4X | Q89H | HET | XLD | Uncertain significance | 0.99 |
C-ASD6 | GNA14 | Y287C | HET | n/d | Uncertain significance | 1 |
Healthy controls (N = 6) | ||||||
C-H1 | ZNF804A | A1108T | HET | n/d | Uncertain significance | 1 |
NIPBL | R765K | HET | AD | Uncertain significance | 0.001 | |
C-H2 | ZNF804A | A1108T | HET | n/d | Uncertain significance | 1 |
C-H3 | RELN | A150V | HET | AD/AR | Uncertain significance | 0.974 |
Patient ID | SIFT | MT | dbSNP | ExAC | 1000 Genome/ EUR AF | |
---|---|---|---|---|---|---|
Patients with ASD and mtDNA deletion (N = 10) | ||||||
P1 | 0.23 | D | n/d | 0.000008278 | n/d | |
P2 | 0.02 | P | rs368106957 | 0.0001819 | 0.0002/0 | |
n/d | D | n/d | 0.0002025 | n/d | ||
P3 | 0.42 | P | n/d | n/d | n/d | |
n/d | D | n/d | n/d | n/d | ||
P4 | 0.02 | D | n/d | n/d | n/d | |
0.14 | P | rs148791504 | 0.0009651 | 0.0016/n/d | ||
P6 | 0.16 | P | rs112183442 | 0.02529 | 0.0158/0.0457 | |
P7 | 0.01 | D | rs370633684 | 0.0004679 | 0.0004/0.00077 | |
P8 | 0.12 | P | rs11555217 | 0.0007 | n/d | |
0.31 | P | n/d | 0.00002282 | n/d | ||
P10 | 1 | P | rs61733392 | 0.004515 | 0.0024/0.006 | |
Patients with ASD and without mtDNA deletion (N = 7) | ||||||
C-ASD1 | 0.29 | D | rs377255888 | 0.00004137 | n/d | |
C-ASD2 | 0 | D | rs139856535 | 0.002787 | 0.0016/n/d | |
0.33 | D | rs80293130 | 0.0002235 | 0.0002/n/d | ||
0.18 | D | n/d | 0.00008303 | n/d | ||
C-ASD3 | 0.91 | D | n/d | n/d | n/d | |
C-ASD4 | 0.1 | D | n/d | n/d | n/d | |
C-ASD6 | 1 | D | rs61755085 | 0.001506 | 0.0014/0.004 | |
Healthy controls (N = 6) | ||||||
C-H1 | 0.16 | P | rs112183442 | 0.02529 | 0.0158/0.0457 | |
0.64 | D | rs185678374 | 0.0005529 | 0.0004/n/d | ||
C-H2 | 0.16 | P | rs112183442 | 0.02529 | 0.0158/0.0457 | |
C-H3 | 0.01 | n/d | n/d | 0.000008245 | n/d |