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Table 1 Summary of the reported cases with NPC having pulmonary manifestation/s

From: Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

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
  1. NA - Not available