Table 4. Analysis of 203 patients with intellectual disability.
(A) Mutations and ranking in the 25 positive patients from the 107 patients sequenced for 217 genes (Redin et al., 2014). (B) Mutations and ranking from 12 novel positive patients with ID identified in an additional cohort of 96 patients screened for 275 genes. Patients are sorted according to the mode of inheritance and the identified gene. Known mutations (from the literature) are highlighted in bold. Ranking into parenthesis highlights the ranking of the variations with a similar score. Mode of inheritance include: AD, autosomic dominant; AR, autosomic recessive; XL, X-linked; XLD, dominant on the X chromosome.
| (A) | |||||||
|---|---|---|---|---|---|---|---|
| Patient# | Sex | Gene | Chromosome | Mode of inheritance | Mutation (cDNA) | Mutation (protein) | Ranking |
| APN-58 | M | DYRK1A | 21 | AD | c.[613C>T];[=] | p.[R205*];[=] | Rank 2 |
| APN-87 | M | c.[621_624delinsGAA];[=] | p.[E208Nfs*3];[=] | Rank 1 | |||
| APN-63 | M | GRIN1 | 9 | AD | c.[1733C>G];[=] | p.[P578R];[=] | Rank 1 (2) |
| APN-14 | M | MED13L | 12 | AD | c.[6118_6125del];[=] | p.[G2040Nfs*32];[=] | Rank 1 (2) |
| APN-46 | M | RAI1 | 17 | AD | c.[2332_2336del];[=] | p.[G778Efs*7];[=] | Rank 1 |
| APN-122 | F | SHANK3 | 22 | AD | c.[2955_2970dup];[=] | p.[P992Rfs*325];[=] | Rank 1 |
| APN-38 | M | SLC2A1 | 1 | AD | c.[724C>T];[=] | p.[E242*];[=] | Rank 2 |
| APN-139 | M | SYNGAP1 | 6 | AD | c.[3583-6G>A];[=] | p.[?];[?] | Rank 1 |
| APN-41 | M | TCF4 | 18 | AD | c.[514_517del];[=] | p.[K172Ffs*61];[=] | Rank 1 |
| APN-117 | F | c.[520C>T];[=] | p.[R174*];[=] | Rank 1 | |||
| APN-138 | M | ATRX | X | XL | c.[109C>T];[0] | p.[R37*];[0] | Rank 1 (2) |
| APN-137 | M | CUL4B | X | XL | c.[811_812del];[0] | p.[E271Aspfs*11];[0] | Rank 1 (2) |
| APN-42 | M | DMD | X | XL | c.[10889del];[0] | p.[R3630Efs*27];[0] | Rank 1 |
| APN-113 | M | HCFC1 | X | XL | c.[218C>T];[0] | p.[A73V];[0] | Rank 1 |
| APN-82 | M | IL1RAPL1 | X | XL | c.[894_903del];[0] | p.[W299Tfs*18];[0] | Rank 1 |
| APN-68 | M | IQSEC2 | X | XL | c.[3097C>T];[0] | p.[E1033*];[0] | Rank 1 (2) |
| APN-34 | M | KDM5C | X | XL | c.[2152G>C];[0] | p.[A718P];[0] | Rank 1 |
| APN-135 | M | c.[1296dup];[0] | p.[E433*];[0] | Rank 1 | |||
| APN-16 | M | MAOA | X | XL | c.[797_798delinsTT];[0] | p.[C266F];[0] | Rank 1 |
| APN-130 | F | MECP2 | X | XLD | c.[952C>T];[=] | p.[R318C];[=] | Rank 2a |
| APN-142 | F | c.[538C>T];[=] | p.[R180*];[=] | Rank 1a | |||
| APN-105 | M | PHF8 | X | XL | c.[1249+5G>C];[0] | p.[Y406Ffs*24];[0] | Rank 4 |
| APN-43 | M | SLC9A6 | X | XL | c.[526-9_526-5del];[0] | p.[?];[0] | Rank 1 |
| APN-110 | M | SLC16A2 | X | XL | c.[1412T>C];[0] | p.[L471P];[0] | Rank 1 |
Notes.
a
Known mutation not annotated as pathogenic in dbSNP.