Present family |
Family study |
3 |
33 |
1 |
AD |
Asian |
C |
SR (2), FI, NT |
p.Arg271n |
p.Arg299Gln |
Mine et al. (2015) |
Original article |
16*
|
50 |
11 |
AD (14), AR(2) |
Asian |
I |
NH, SR, AS (few), DD (1), NT, UH (10) |
p.Arg271Gln (10) |
p.Arg299Gln |
p.Ala272Pro (2) |
p.Ala300Pro |
p.Tyr279Cys (1) |
p.Tyr307Cys |
p.Lys276Glu (1) |
p.Lys304Glu |
p.Ala384Pro/p.Arg392His (1) |
p.Ala412Pro/p.Arg420His |
p.Arg316X/p.Arg392His (1) |
p.Arg344X/p.Arg420His |
Hmami et al. (2014) |
Case report/series |
1 |
100 |
1‡
|
AR |
African |
I |
NH, SR, AS, NT |
p.Arg392His |
p.Arg420His |
Horváth et al. (2014) |
Case report/series |
1 |
100 |
1 |
AD |
Asian |
I |
NH, HD |
p.lle43e |
p.lle71Phe |
Lee et al. (2013) |
Original article |
1*
|
100 |
1 |
AD |
Asian |
I |
NH, SR, FD |
p.Arg271 |
p.Arg299X |
Chan et al. (2014) |
Case report/series |
1 |
100 |
1 |
AR |
Asian |
I |
SR, Rg, FI, DD, NT |
p.Cys138Ser/p.Asp148Metfs*16 |
p.Cys166Ser/p.Asp176Metfs*16 |
Zoons et al. (2012) |
Family study |
5 |
20 |
1 |
AD |
Caucasian |
I (1), U (4) |
NH (4), SR (4), FI (4), DM (4), NT |
p.Lys104Argfs*15 |
p.Lys132Argfs*15 |
Al-Futaisi et al. (2012) |
Family study |
9 |
78 |
2‡
|
AR |
Arabic |
I (6), C (3) |
NH (6), SR (9), AS (1), DD (8), NT (1) |
p.Trp170Ser |
p.Trp198Ser |
Gregory et al. (2008) |
Family study |
4 |
50 |
1‡
|
AD |
African |
I (2), C (2) |
NH (2), SR (3), AS (1), FD (1), DD (2), UH (2) |
p.Arg271Pro |
p.Arg299Pro |
Kang et al. (2008) |
Case report/series |
1 |
100 |
1 |
AD |
Asian |
I |
NH, SR, DM, NT |
p.Lys276Gln |
p.Lys304Gln |
Forsyth et al. (2007) |
Case report/series |
2 |
0 |
1‡
|
AR |
Turkish |
I |
NH (1), SR, Rg (1), FI (1), AS (1), DD, NT |
p.Tyr228Cys |
p.Tyr256Cys |
Doria Lamba et al. (2007) |
Family study |
7 |
71 |
1 |
AD |
Unknown |
I |
NH, SR, FI (6), AS (4), DM, NT, UH |
p.Lys276Glu |
p.Lys304Glu |
Becker et al. (2006) |
Family study |
7 |
83 |
6‡
|
AR |
Turkish |
I |
NH, SR, FI (1), AS (2), DM (1), NT (1) |
deletion of exons 1-7 |
deletion of exons 1-8 |
Sirén et al. (2006) |
Family study |
5 |
20 |
1‡
|
AR |
Turkish |
I |
NH (3), SR (1), Rg (1), FI (3), AS, DD (1), NT (1) |
deletion of exons 1-7 |
deletion of exons 1-8 |
Poon et al. (2006) |
Case report/series |
1 |
0 |
1 |
AD |
Asian |
I |
NH, SR |
p.Tyr279Ser:het |
p.Tyr307Ser:het |
Coto et al. (2005) |
Family study |
3 |
67 |
1 |
AR |
Caucasian |
I |
NH, SR |
p.Arg72His |
p.Arg100His |
Tsai et al. (2004) |
Family study |
2 |
0 |
1 |
AR |
Asian |
I (1), U (1) |
SR, Rg, FI, DD (1), NT(1) |
p.Trp68Cys/p.Arg316X |
p.Trp96Cys/p.Arg344X |
Tijssen et al. (2003) |
Original articles |
6 |
67 |
6 |
AD |
Caucasian |
I |
SR, FI, NT, CF (2) |
p.Arg271Gln (4) |
p.Arg299Gln |
p.Lys276Glu (2) |
p.Lys304Glu |
Miraglia Del Giudice et al. (2003) |
Case report/series |
1 |
100 |
1 |
AD |
Caucasian |
I |
NH, SR, FI, AS, DD, DM, NT |
p.Arg218Gln |
p.Arg246Gln |
Humeny et al. (2002) |
Original articles |
1 |
100 |
1‡
|
AR |
Asian |
I |
SR, FI, DD, NT |
p.Ser231Arg |
p.Ser259Arg |
del Giudice et al. (2001) |
Case report/series |
1 |
100 |
1 |
AD |
Caucasian |
I |
NH, SR, Rg, NT |
p.Val260Met |
p.Val288Met |
Kwok et al. (2001) |
Case report/series |
3†
|
33 |
2 |
AD |
Caucasian |
I (2), U (1) |
NH (2), SR, FI, DD (1), NT (2) |
p.Arg271Gln (1) |
p.Arg299Gln |
p.Tyr279Cys (2) |
p.Tyr307Cys |
Jungbluth et al. (2000) |
Case report/series |
1 |
100 |
|
AD |
Caucasian |
I |
NH, SR, Rg, FI, DD, NT |
p.Gly342Ser |
p.Gly342Ser |
Vergouwe et al. (1999) |
Family study |
2 |
50 |
1 |
AR |
Caucasian |
I |
NH, SR, FI, DD (1), NT, UH |
p.Arg252His |
p.Arg280His |
Brune et al. (1996) |
Original articles |
1 |
0 |
1‡
|
AR |
Turkish |
I |
NH, SR, AS, DD |
Deletion of exons 1-6 |
Deletion of exon 1-7 |
Milani et al. (1996) |
Family study |
4 |
25 |
1 |
AD |
Caucasian |
I (1), U (3) |
NH (2), SR (2), AS (1) |
p.Gln266His |
p.Gln294His |
Rees et al. (1994) |
Case report/series |
10 |
100 |
2 |
AD |
Caucasian |
I (9), U (1) |
NH, SR, Rg, FI, DM, UH (most) |
p.Arg271Gln |
p.Arg299Gln |
p.lle244Asp |
p.lle272Asp |
Ryan et al. (1992) |
Family study |
29 |
41 |
1 |
AD |
unknown |
I |
NH, AS (5), FI (25), FD (1), DD (1), NT(1), IH (1) |
p.Arg271leu |
p.Arg299leu |
Hayashi et al. (1991) |
Family study |
9 |
67 |
2 |
AD |
Asian |
I (7), U (2) |
NH (5), SR (6), AS (4), FI (8), NT (7), IH (2), HD (2) |
p.Arg271Gln |
p.Arg299Gln |
Kurczynski (1983) |
Family study |
9 |
56 |
1 |
AD |
Caucasian |
I |
NH (9), SR (8), AS (1), FI (8), NT (3), UH (1) |
p.Arg271Gln |
p.Arg299Gln |
Morley et al. (1982) |
Family study |
15 |
33 |
1 |
AD |
Unknown |
I |
NH (12), SR, FI, NT (2) IH (3), HD (6) |
p.Tyr279Cys |
p.Tyr307Cys |