TABLE 1.
LIPA Mutations among 55 Unrelated Patients with Cholesteryl Ester Storage Disease (CESD)
| Mutation | Frequency (n) | Ethnicity | Reference |
|---|---|---|---|
| Missense/Nonsense Mutations | |||
| c.193C>T (p.R65X) | 0.018 (2) | French | Redonnet-Vernhet, et al. 1997 (33) |
| Czech | Lohse, et al. 2000 (34) | ||
| c.254A>G (p.Q85R) | 0.009 (1) | Brazilian | Pagani, et al. 1998 (9) |
| c.260G>T (p.G87V) | 0.009 (1) | Sicilian | Pagani, et al. 1996 (10) |
| c.283T>A (p.W95R) | 0.009 (1) | Czech | Elleder, et al. 1999 (35) |
| c.356A>G (p.N119S) | 0.009 (1) | Australian | Hooper, et al. 2008 (36) |
| c.386A>G (p.H129R) | 0.009 (1) | Swiss | Ries, et al. 1998 (37) |
| c.386A>C (p.H129P) | 0.018 (2) | Austrian | Gasche, et al. 1997 (38) |
| Austrian | Ries, et al. 1998 (37) | ||
| c.419G>A (p.W140X) | 0.009 (1) | Croatian | Fasano, et al. 2012 (39) |
| c.435T>A (p.D145E) | 0.009 (1) | Czech | Elleder, et al. 1999 (35) |
| c.599T>C (p.L200P) | 0.009 (1) | NR | Maslen, et al. 1995 (40) |
| c.605C>T (p.P202L) | 0.009 (1) | Italian | Pagani, et al. 1996 (10) |
| c.652C>T (p.R218X) | 0.009 (1) | Italian | Pisciotta, et al. 2009 (41) |
| c.796G>T (p.G266X) | 0.009 (1) | Polish-German | Aslanidis, et al. 1996 (5) |
| c.863C>T (p.T288I) | 0.018 (2) | Italian | Pagani, et al. 1998 (9) |
| c.866C>G (p.S289C) | 0.009 (1) | African-American | Anderson, et al. 1999 (32) |
| c.881T>C (p.L294S) | 0.009 (1) | Italian | Pagani, et al. 1996 (10) |
| c.883C>T (p.H295Y) | 0.045 (5) | Sicilian | Pagani, et al. 1994 (42) |
| Italian | Redonnet-Vernhet, et al. 1997 (33) | ||
| Italian | Fasano, et al. 2012 (39) | ||
| c.1024G>A (p.G342R) | 0.018 (2) | African-American | Anderson, et al. 1999 (32) |
| Greek | Fasano, et al. 2012 (39) | ||
| c.1070T>C (p.L357P) | 0.009 (1) | Canadian-Norwegian | Seedorf, et al. 1995 (43) |
| Splicing Mutations | |||
| c.676-2A>G | 0.009 (1) | Italian | Pagani, et al. 1996 (10) |
| c.894G>A | 0.600 (65) | Polish-German | Klima, et al. 1993 (7) |
| NR | Maslen, et al. 1995 (40) | ||
| Canadian-Norwegian | Seedorf, et al. 1995 (43) | ||
| German | Ameis, et al. 1995 (44) | ||
| Spanish | Muntoni, et al. 1995 (8) | ||
| Sicilian | Pagani, et al. 1996 (10) | ||
| Polish-German | Aslanidis, et al. 1996 (5) | ||
| Italian, French | Redonnet-Vernhet, et al. 1997 (33) | ||
| Austrian | Gasche, et al. 1997 (38) | ||
| Brazilian | Pagani, et al. 1998 (9) | ||
| Austrian | Ries, et al. 1998 (37) | ||
| Brazilian | Du, et al. 1998 (45) | ||
| Czech | Elleder, et al. 2000 (46) | ||
| NR | Anderson, et al. 1999 (32) | ||
| German | vom Dahl, et al. 1999 (47) | ||
| Czech | Elleder, et al. 2000 (46) | ||
| Irish, Czech | Lohse, et al. 2000 (34) | ||
| German | Rassoul, et al. 2001 (48) | ||
| German | Drebber, et al. 2005 (49) | ||
| NR | Tadiboyina, et al. 2005 (50) | ||
| Australian | Hooper, et al. 2008 (36) | ||
| Italian | Pisciotta, et al. 2009 (41) | ||
| Italian, Greek, Croatian | Fasano, et al. 2012 (39) | ||
| Small Insertions/Deletions | |||
| c.397_398delTC (p.V134Ffs*4) | 0.009 (1) | NR | Anderson, et al. 1999 (32) |
| c.594insT (p.A199Cfs*13) | 0.009 (1) | NR | Tadiboyina, et al. 2005 (50) |
| c.635delC (p.P212Lfs*5) | 0.009 (1) | Czech | Elleder, et al. 2000 (46) |
| c.684delT (p.F228Lfs*13) | 0.009 (1) | Irish | Lohse, et al. 2000 (34) |
| c.967_968delAG (p.S323Lfs*44) | 0.009 (1) | German | Ameis, et al. 1995 (44) |
| c.980delC (p.T327Nfs*4) | 0.009 (1) | NR | Anderson, et al. 1999 (32) |
| c.1028delG (p.G343Vfs*15) | 0.009 (1) | Czech | Lohse, et al. 2000 (34) |
| Gross Deletions | |||
| intron 1 to exon 4 | 0.009 (1) | Swiss | Ries, et al. 1998 (37) |
| Complex Rearrangements | |||
| c.229-33_c.230dup, c.232_245del (p.G77fs*5) | 0.009 (1) | Italian | Pisciotta, et al. 2009 (41) |
| Undetermined Mutations | 0.064 (7) | Polish-German | Klima, et al. 1993 (7) |
| Italian | Pagani, et al. 1996 (10) | ||
| NR | Anderson, et al. 1999 (32) | ||
| Czech | Elleder, et al. 1999 (35) | ||
NR: not reported.