Table 2.
Summary of FOXP1 variants identified in controls and in patients with mental retardation
| Variants | MR patients | Controls | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Genotypes | Status of inheritance | Genotypes | |||||||
| 11 | 12 | 22 | 11 | 12 | 22 | ||||
| Non-synonymous variants | |||||||||
| c.13T>C | p.Ser5Pro | Exon 6 | 882 | 1 | 0 | maternal | 674 | 2 | 0 |
| c.226_228dupCAG | p.Gln76dup | Exon 7 | 882 | 1 | 0 | maternal | 676 | 0 | 0 |
| c.301A>G | p.Met101Val | Exon 8 | 882 | 1 | 0 | n.a. | 667 | 0 | 0 |
| c.643C>G† | p.Pro215Ala | Exon 10 | 882 | 1 | 0 | maternal | 336 | 2 | 0 |
| c.781T>C | p.Ser261Pro | Exon 11 | 882 | 1 | 0 | n.a. | 676 | 0 | 0 |
| c.1168A>T | p.Thr390Ser | Exon 15 | 882 | 1 | 0 | maternal | 675 | 1 | 0 |
| c.1709A>G | p.Asn570Ser | Exon 19 | 882 | 1 | 0 | paternal | 338 | 0 | 0 |
| c.1790A>C | p.Asn597Thr | Exon 20 | 882 | 1 | 0 | n.a. | 676 | 0 | 0 |
| Synonymous variants | |||||||||
| c.768G>A | p.Thr256Thr | Exon 11 | 882 | 1 | 0 | n.a. | 673 | 0 | 0 |
| c.1188G>A | p.Ser396Ser | Exon 15 | 882 | 1 | 0 | maternal | 674 | 0 | 0 |
| c.1515C>T | p.Asn505Asn | Exon 17 | 882 | 1 | 0 | maternal | 674 | 0 | 0 |
| Non-coding variants | |||||||||
| c.1-5G>A | 5′UTR | 882 | 1 | 0 | paternal | 674 | 0 | 0 | |
| c.180+49T>C | Intron 6 | 80 | 30 | 1 | not tested (dbSNP rs2037474) | ||||
| c.181-29G>A† | Intron 6 | 875 | 7 | 1 | 1 x mat, 2 x pat, 1 x mat + pat, 4 x n.a. | 653 | 21 | 0 | |
| c.181-30C>T | Intron 6 | 882 | 1 | 0 | n.a. | 676 | 0 | 0 | |
| c.664+11A>G | Intron 10 | 882 | 1 | 0 | maternal | 674 | 0 | 0 | |
| c.664+6C>T | Intron 10 | 882 | 1 | 0 | n.a. | 674 | 0 | 0 | |
| c.975-14A>G | Intron 12 | 882 | 1 | 0 | maternal | 673 | 1 | 0 | |
| c.1889+20A>C† | Intron 20 | 95 | 15 | 1 | not tested (dbSNP rs7638391) | ||||
| c.1890-15G>T† | Intron 20 | 110 | 1 | 0 | not tested (dbSNP rs7639736) | ||||
Listed is the number of individuals carrying the respective homozygous or heterozygous genotypes (11, 12 or 22; GenBank NM_032682.4). Patients and matched healthy controls were of German origin.
†
also found by Vernes et al, 2009.
MR, mental retardation; n.a., parents not available; mat, maternal; pat, paternal. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon.