Table 2.
CLN6 Mutations in Patients with vLINCL[Note]
| Geographic Origin,Genotype, andNucleotide Change | No. ofFamilies | Mutation | Amino Acid Change/Predicted Consequence | Location(Exon) | Restriction-SiteChange |
| Greece: | |||||
| Homozygous: | |||||
| c.6delG | 1 | 1-bp deletion | Frameshift after E2 (extra 29 amino acids) | 1 | MnlI (loss) |
| Costa Rica: | |||||
| Heterozygousa | 1 | ||||
| Homozygous: | |||||
| c.214G→T | 6 | Nonsense | E72X | 3 | BfaI (gain) |
| c.368G→A | 1 | Missense | G123D | 4 | BanI (loss) |
| Pakistan: | |||||
| Heterozygousa,b | 1 | ||||
| Homozygous: | |||||
| c.316insCb | 2 | 1-bp insertion | Frameshift after P105 (extra 25 amino acids) | 4 | None |
| India: | |||||
| Homozygous: | |||||
| c.395_397delCT | 1 | 2-bp deletion | Frameshift after D131 (extra 17 amino acids) | 4 | HinfI (loss) |
| Portugal: | |||||
| Heterozygousa | 1 | ||||
| Homozygous: | |||||
| c.460_462delATC | 1 | 3-bp deletion | I154del | 4 | None |
Note.— For mutations in exons 1, 3, and 4, respectively, 26, 30, and 34 normal chromosomes were sequenced. Mutation nomenclature is as recommended by den Dunnen and Antonarakis (2001).
a
The second mutation has not been identified in these patients.
b
This mutation is identical to that in the nclf mouse.