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Table 1 Mutational analysis of MPS III patients

From: Natural history of Sanfilippo syndrome in Spain

Case number M/F Year of birth MPS III subtype Mutation Reference
1 M 2004 III-A p. [L343Pfsx158]+ p. [D235N] Weber 1997 [[21]]
(c. [1027dupC]+c. [703G>A]) Bunge 1997 [[22]]
8 F 1998 III-A p. [A354P]+ p. [L343Pfsx158] Monfort 1998, [[23]]
(c. [1027 dupC] + (c. [1063G>C]) Weber 1997 [[21]]
Bunge 1997 [[22]]
9 M 1996 III-A p. [R74C +?] (c. [220C>T +?]) Weber 1997 [[21]]
14 F 1996 III-A p. [R74C + R47C] (c. [220C>T + 220C>T ]) Weber 1997 [[21]]
15 M 2005 III-A p. [R433Q]+ p. [R433Q] (c. [1298G>A]+ Chabas 2001 [[24]]
c. [1298G>A ])
17 M 1997 III-A p. [V361fsX52)+ V361fsX52] ( c. [1079 del C + 1079delC]) Monfort 1998 [[23]]
19 M 2001 III-A p. [V361fsX52 ]+p. [ R433Q] (c. [1079 del C] +c. [1298G>A]) Monfort 1998 [[23]]
21 F 2000 III-A p. [S66W +?] (c. [197C>G +?]) Montfort 2004 [[25]]
only Father mutation found
24 * M 1976 III-A p. [V361fsX52]+ p. [V361fsX52] (c. [1079 del C] + c. [1079delC]) Monfort 1998 [[23]]
25* M 1986 III -A p. [V361fsX52]+ p. [V361fsX52] ( c. [1079 del C] + c. [1079delC]) Monfort 1998 [[23]]
26 F 1990 III-A p. [S66W ]+ p. [R74H] Montfort 2004 [[25]]
(c. [197C>G] + c. [220C>T]) Weber1997 [[21]]
27 ** M 1981 III-A p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C]) Monfort 1998 [[23]]
Montfort 2004 [[25]]
28** M 1984 III-A p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C]) Monfort 1998 [[23]]
Montfort 2004 [[25]]
36 F 2007 III-A p. [R74C]+ p. [Q85R] Weber1997 [[21]]
(c. [220C>T] +c. [254A>G]) Montfort 1998 [[23]]
37 F 2009 III-A p. [V361SfsX52] + p. [V361fsX52] (c. [1079 del C] + Montfort 1998 [[23]]
c. [1079 del] )
39 M 2005 III-A p. [V361fsX52)+ p. [V361fsX52] c. [1079 del C] + c. [1079delC]) Monfort 1998 [[23]]
42 M 2002 III-A p. [F1625fsX6] +p. [ R206P] Not previously reported
c. ([484–486 del TC] + c. ([617G>C ]) Montfort 1998 [[23]]
43 M 1991 III-A p. [R433 W]+p. [R433W] (c. [12097C>T] + c. [1297C>T]) Beesley 2000 [[26]]
44*** F 1973 III-A p. [V75RfsX116; V501M] (c. [221insC; 1501G>A]  
45*** F 1976 III-A p. [V75RfsX116; V501M] (c. [221insC; 1501G>A]  
46 F 2008 III-A p. [L343Pfsx158 ]+ p. [L343Pfsx158] Monfort 1998 [[23]]
(c. [1027insC]+c. [127insC]) Weber 1997 [[21]]
52 F 1971 III-A p. [R74H +?] (c. [221G>A + ?]) Bunge 1997 [[22]]
55 M 2010 III-A p. [V361fsX52]+p. [S66W] (c. [.1079c >G] c. [197C>G]) Montfort 1998 [[23]] Montfort 2004 [[25]]
2 F 2004 III-B p. [R38W]+ p. [R38W ] (c. [112C>T] + c. [112C>T]) Beesley 2005 [[27]]
3 F 2001 III-B p. [R234C + L622P] + Beesley 1998 [[28]]
c. (700 C >T+1865 >C ) Not previously reported
10 F 2004 III-B p. [M338V] + [W404X+R541W] Not previously reported
(c. [1012A>G]+[1211G>A+1621C>T]) Bunge 1999 [[29]]
18 M 2002 III-B (c. [531+5G>A] +c. [531+5G>A]) IVS2+5G>A + IVS2+5G>A Not previously reported
31 M 1991 III-B (c. [531+5G>A ]+ c. [531+5G>A]) IVS2+5G>A + IVS2+5G>A Not previously reported
32 F 2000 III-B p. [R234C]+p. [W168X] Beesley 1998 [[28]]
(c. [700C>T+503G>A]) Coll 2001 [[30]]
35 F 1990 III-B p. [R643C+P115S](c. [1927C>T+ 343C>T]) Beesley 1998 [[28]]
Schmidtchen 1998 [[31]]
23 M 2003 III-C C. [372-2A>G + 372-2A>G] Canals 2011 [[17]]
(IVS3-2A>G + IVS3-2A>G)
33 M 1987 III-C c. [234+1G>A] + c. [234+1G>A] (IVS2 + 1G>A + IVS2+1G>A)  
  1. M: Male F: Female.
  2. *24 -25 / ** 27 – 28 / *** 43 – 44: were two pairs of siblings from different families.
  3. * 24 – 25 death at 19 and 26 years respectively.