Table 2

Mutations identified in VPS13B gene from 12 patients (8 families) with Cohen syndrome

Patients (family)Nucleotide change (amino acid change)ExonSource
P1c.436C>T (p.R146X)5Novel
F1Second mutation not found
P2, P3c.10139_10143dupCGCCA (p.A3380fsX3396)56Novel
F2Second mutation not found
P7c.1220delA (p.Q407fsX418)9Novel
F6c.7286delT (p.V2429fsX2430)40Novel
P8, P9c.4907T>A (p.I1636N)31Novel
F7c.4907T>A (p.I1636N)31Novel
P10, P11c.2074C>T (p.R692X)154,10
F8c.5426_5427dupAG (p.Q1810fsX1830)344,10
P15c.3427C>T (p.R1143X)23Novel
F11[c.10880C>T; c.10883_10900delCGAGGCAGCTTGTGCACG]* ([p.T3627I;p.A3628_H3633del])56Novel
P18, P19c.916_917delGA (p.D306fsX9)7Novel
F14c.1006C>T (p.Q336X)8Novel
P21c.477_480delACTA (p.I159fsX21)5Novel
F16c.11859_11860insAA (p.N3954fsX60))62Novel
  • * These two sequence variations were found on the same allele.