Table 1 Summary of the reported cases with NPC having pulmonary manifestation/s
Exon/Intron | No. of cases | Mutations Reported | Ethnic origins | References | ||
|---|---|---|---|---|---|---|
Change at Nucleotide level | Change at Protein level | Types of mutation | ||||
Exon 1 | N = 6 | c.58G > T/c.58G > T | p.E20X/p.E20X | Nonsense | French (n = 1), Algerian (n = 1), Italian (n = 2), Czech (n = 1) | 16, 18 |
c.58G > T/c.27delG | p.E20X/p.L9SfsX | Frameshift | French (n = 1) | 18 | ||
Intron 1 | N = 2 | c.82 + 2 T > C /c.82 + 2 T > C | NA | Splice site | Sri-Lanka (n = 1) Indian (n = 1) | 16, Present study |
Exon 2 | N = 4 | c.133C > T/c.133C > T | p.Q45X/p.Q45X | Nonsense | NA (n = 1) | 11 |
c.141C > A/c.141C > A | p.C47X/p.C47X | Nonsense | NA (n = 1) Indian (n = 1) | 11, Present study | ||
c.165C > G/c.165C > G | p.Y55X/p.Y55X | Nonsense | Pakistani (n = 1) | 11 | ||
Exon 3 | N = 4 | c.199 T > C/c.199 T > C | p.S67P/p.S67P | Missense | Turkish (n = 1) | 18 |
c.332delA/c.332delA | p.N111IfsX/p.N111IfsX | Frameshift | NA (n = 1) | 3, 15 | ||
c.352G > T/c.352G > T | p.E118X/p.E118X | Nonsense | German (n = 2) | 18, 19 | ||
Intron 3 | N = 1 | IVS3 + 6 T > G | EX3del/fs75X | Spliceing | NA | 21 |
Exon 4 | N = 2 | c.434 T > A/c.434 T > A | p.V145E/p.V145E | Missense | Turkish (n = 1) | 22 |
c.436C > T/c.436C > T | p.Q146X/p.Q146X | Nonsense | Tunisian (n = 1) | 13 | ||