Table 2.
Variants in CNTNAP1 gene.
| Patient | Ethnicity | Age at death | Sex | Variant | Type | Exon | Transmission | Disease |
|---|---|---|---|---|---|---|---|---|
| 1 [1] | Palestinian | Is now 9 yo | M | c.2015G>A:p.(Trp672∗) | Nonsense | 13 | Homozygous | CHN3 |
| 2 [1] | Palestinian | Is now 12 yo | M | c.2015G>A:p.(Trp672∗) | Nonsense | 13 | Homozygous | CHN3 |
| 3 [1] | Palestinian | Is now 4 w | M | c.2015G>A:p.(Trp672∗) | Nonsense | 13 | Homozygous | CHN3 |
| 4 [1] | Northern Irish | 4 m | M | c.2011C.T:p.(Gln671∗) | Nonsense | Heterozygous | CHN3 | |
| c.2290C.T:p.(Arg764Cys) | Missense | |||||||
| 5 [1] | Northern Irish | 4 h | M | c.2011C.T:p.(Gln671∗) | Nonsense | Heterozygous | CHN3 | |
| c.2290C.T:p.(Arg764Cys) | Missense | |||||||
| 6 [2] | French | 4 h | M | c.2289C>T:p.(Arg764Cys) | Missense | Heterozygous | CHN3 | |
| c.2011C>T:p.(Gln671∗) | Nonsense | |||||||
| 7 [2] | French | 2 m | M | c.967T>C:p.(Cys323Arg) | Missense | 7 | Heterozygous | CHN3 |
| c.1869G>A:p.(Trp623∗) | Nonsense | 13 | ||||||
| 8 [2] | French | 1 h | M | c.967T>C:p.(Cys323Arg) | Missense | 7 | Heterozygous | CHN3 |
| c.1869G>A:p.(Trp623∗) | Nonsense | 13 | ||||||
| 9 [8] | Qatari | Is now 13 yo | F | c.1561dupC:p.(Leu521ProfsX12) | Nonsense | Homozygous | LCCS7 | |
| 10 [8] | Qatari | 1 h | F | c.1561dupC:p.(Leu521ProfsX12) | Nonsense | Homozygous | LCCS7 | |
| 11 [8] | Qatari | 1 h | F | c.1561dupC:p.(Leu521ProfsX12) | Nonsense | Homozygous | LCCS7 | |
| 12 [6] | French | 10 d | M | c.2901_2902del (P967PfsX12) | Frameshift | 18 | Homozygous | LCCS7 |
| 13 [6] | French | 10 d | M | c.2901_2902del (P967PfsX12) | Frameshift | 18 | Homozygous | LCCS7 |
| 14 [6] | French | 10 d | M | c.2901_2902del (P967PfsX12) | Frameshift | 18 | Homozygous | LCCS7 |
| 15 [6] | French | 1 m | M | c.3009_3010insT (F1003fs) | Frameshift | 19 | Homozygous | LCCS7 |
| 16 [6] | French | 1 m | M | c.3009_3010insT (F1003fs) | Frameshift | 19 | Homozygous | LCCS7 |
| 17 [6] | French | 1 m | M | c.3009_3010insT (F1003fs) | Frameshift | 19 | Homozygous | LCCS7 |
| 18 [6] | French | 10 d | M | c.2993-2_2994del (I999WfsX5) | Frameshift | 19 | Homozygous | LCCS7 |
| 19 [7] | American | 1 m | M | c.1163G>C:p.(Arg388Pro) | Missense | Homozygous | CHN3 | |
| 20 [10] | English | Is now 15 yo | F | c.2141G>C:p.(Arg714Pro) | Missense | Homozygous | CHN3 | |
| 21 [10] | English | Is now 8 yo | M | c.635T>C:p.(Leu212Pro) | Missense | Heterozygous | CHN3 | |
| c.1677G>A:p.(Trp559∗) | Nonsense | CHN3 | ||||||
| 22 [10] | English | Is now 6 yo | M | c.635T>C:p.(Leu212Pro) | Missense | Heterozygous | CHN3 | |
| c.1677G>A:p.(Trp559∗) | Nonsense | |||||||
| 23 [10] | English | Is now 7 yo | M | c.2344C>T:p.(Arg782∗) | Nonsense | Homozygous | CHN3 | |
| 24 [10] | English | Is now 4 yo | F | c.1735+1G>A | Nonsense | Heterozygous | CHN3 | |
| c.2344C>T:p.(Arg782∗) | Nonsense | |||||||
| 25 [10] | English | Is now 2 yo | M | c.149C>A:p.(Pro50Gln) | Missense | Heterozygous | CHN3 | |
| c.2600del:p.(Asp867fs) | Frameshift | |||||||
| 26 [10] | English | 3 m | F | c.1861C>T:p.(Arg621∗) | Nonsense | Heterozygous | CHN3 | |
| c.2687G>A:p.(Trp896∗) | Nonsense | |||||||
| 27 [11] | French | 2 m | M | c.967T4C:p.(Cys323Arg) | Missense | 7 | Heterozygous | CHN3 |
| c.1869G4A:p.(Trp623∗) | Nonsense | 13 | ||||||
| 28 [11] | French | 1 h | M | c.967T4C:p.(Cys323Arg) | Missense | 7 | Heterozygous | CHN3 |
| c.1869G4A:p.(Trp623∗) | Nonsense | 13 | ||||||
| 29 [9] | American | Is now 8 yo | M | c.1163G>C: p.(Arg388Pro) | Homozygous | CHN3 | ||
| 30 [9] | American | 8 y | F | c.967T>C: p.(Cys323Arg) | Missense | 7 | Heterozygous | CHN3 |
| c.319C>T:p.(Arg107∗) | ||||||||
| 31 | Lebanese | Is now 7 yo | M | c.3361C>T: p.(Arg1121∗) | Nonsense | Homozygous | LCCS7 |