* a semicolon in a list implies “and” unless otherwise specified
† only alleles occurring with > 1% frequency reported;
nomenclature in parentheses is trivial/common name
‡ Class 1 = null alleles; Class 2 = disrupted transport of receptor;
Class 3 = disrupted binding of LDL to receptor; Class 4 = bound
LDL not internalized; Class 5 = receptor recycling defective;
N.R.= not reported, allele class not stated in literature
§ ∆, deletion; LDLC, low-density lipoprotein cholesterol; CHD, coronary heart disease; MI, myocardial infarction;
| Africa |
|
|
|
|
|
|
|
|
| South Africa/ Blacks |
14 black hetero-zygous FH
patients (4 males, 10 females; age
26-61 years) from lipid clinics in
South Africa. |
Classical FH (12
probands) defined as
pretreat-ment TC*
>7mmol/l and either
tendon xantho-mata or
premature CHD* in
proband or 1st deg.
relative. Probable FH (4
probands) defined as
pretreatment
TC>7mmol/l and primary
hypercholes-terolaemia or
premature CHD in the
family. |
HEX-SSCP* of
promoter and
coding region |
HEX-SSCP
and DGGE* of
APOB |
7 in LDLR
0 in APOB |
64% (9 of 14
indivi-duals) |
6-bp ∆* in exon 2
in LDLR
(21.4%)
None in APOB |
Thiart et al.,
2000 (100) |
| South Africa/ Mixed
Ancestry |
236 unrelated hetero-zygous FH
adult patients from lipid clinics in
Western Cape Province of South
Africa. All patients of mixed
ancestry. |
FH defined according to
the Simon Broome
Register criteria (13). |
Screened for seven
FH mutations
common in South
African
populations |
Screened for
R3500Q |
6 in LDLR
1 in APOB |
22% (41 of 186
indivi-duals with
“definite” FH and 10
of 50 indivi-duals with
“probable” FH) |
None |
Loubster et
al., 1999
(112) |
| Americas |
|
|
|
|
|
|
|
|
| Brazil/ Brazilian
(European ancestry) |
35 unrelated hetero-zygous FH
patients (10 males, 25 females;
mean age 50 years) from San
Paulo City. All of European
ancestry. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
SSCP* of
promoter and
coding regions |
DNA analysis
of codons 3500
and 3531 |
15 in LDLR
0 in APOB |
63% (22 of 35
indivi-duals) |
G352D in LDLR
(11%)
A37OT in LDLR
(11%)
None in APOB |
Salazar et al.,
2002 (98) |
| Brazil/ Brazilian (multiethnic
population) |
Hetero-zygous FH patients (age 4-
69 years) from 31 unrelated
families of various ethnicities in
Brazil. |
TC and LDLC* > 95%
for age and sex;
triglycerides < 400mg/dl;
autosomal inheritance. |
Screened for
Lebanese C660X
mutation and gross
abnorm-alities in
LDLR |
Screened for
R3500Q |
2 in LDLR
0 in APOB |
32% (10 of 31
families) |
C660X in LDLR
(29%) |
Alberto et
al., 1999
(140) |
| Canada/ Canadian |
60 unrelated hetero-zygous FH
patients recruited from lipid clinic
patients in Ontario. None with
grandparent with French Canadian
Ancestry. |
LDLC>95% for age and
sex and tendon
xanthomas. |
Direct sequencing
of promoter and
coding region |
Patients with
the R3500Q
mutation were
excluded |
25 in LDLR |
57% (34 of 60
individuals) |
None |
Wang et al.,
2001 (99) |
| Canada/ Canadian
(Vancouver) |
234 hetero-zygous FH patients
identified at a lipid clinic in
Vancouver. |
At least two of: a) total
and LDLC >95% for age
and sex, b) family history
of hypercholes-terolemia
and/or premature athereo-sclerosis in 1st
deg. relative ( age <55
years for males, <60
years for female) c)
physical signs including
arcus cornealis and
tendon xanhomas. |
Southern blot
hybrid-ization with
LDLR cDNA
probes to assess
major structural
rearrange-ments |
Not considered |
6 in LDLR |
2.5% (6 of 234
indivi-duals) |
None |
Langlois et
al., 1988
(141) |
| Canada/ Chinese |
19 unrelated hetero-zygous FH
patients of Cantonese ancestry
identified at a lipid clinic in
Vancouver. |
At least two of: a) LDLC
>95% for age and sex, b)
premature CAD* (age
<60 years) in 1st deg.
relative 3) tendon
xantho-mata in index
patient or 1st deg.
relative or pediatric
relative with LDLC
>95%. |
Screened for four
mutations known
to occur in the
Chinese population |
Not considered |
4 in LDLR |
21% (4 of 19
indivi-duals) |
C163R in LDLR
(10.5%) |
Primstone et
al., 1998 (96) |
| Canada/ Chinese |
36 hetero-zygous FH patients of
Cantonese ancestry from lipid
clinic diagnosed with FH. |
LDLC >95% and
premature CAD (age <60
years) in 1st deg. relative |
Not considered |
Screened for
R3500Q |
1 in APOB |
2.7% (1 of 36
indivi-duals) |
None |
Abdel
Wareth et al.,
1997 (142) |
| Asia |
|
|
|
|
|
|
|
|
| Hong Kong/ Chinese |
30 Chinese hetero-zygous FH
patients (17 males, 13 females;
age 11-80 years) attending lipid
clinic in Hong Kong. |
FH defined according to
the Simon Broome
Register criteria (13). |
SSCP of promoter
and coding regions |
Screened for
R3500Q |
18 in LDLR
0 in APOB |
70% (21 of 30
indivi-duals) |
None |
Mak et al.,
1998 (101) |
India/
Indians |
25 hyper-cholest-erolemic patients
(mean age 40.76 years), selected
from individuals attending regular
health check-up programs in
Mumbai, India. |
FH defined according to
the Simon Broome
Register criteria (13). |
Screened for 4
mutations reported
in Indian
immigrants in
South Africa, and
performed
modified
hetero-duplex
analysis of exons
3, 4, 9 and 14 |
Not considered |
2 in LDLR |
8% (2 of 25
indivi-duals) |
None |
Ashavaid et
al., 2000
(143) |
| Japan/ Japanese |
120 unrelated Japanese patients
clinically diagnosed as
hetero-zygous FH (48 males, 72
females; mean age 45.3 years). |
TC >6.7 mmol/l and at
least one of: a) tendon
xanthomas b) a 1st or 2nd
deg. relative with tendon
xanthomas c) low LDLreceptor
activity in
fibroblasts |
Screened for 5
specific mutations |
Not considered |
5 in LDLR |
31.7% (38 of 120
indivi-duals) |
1845+2 T->C in
LDLR (13.3%) |
Maruyama et
al., 1995 (93) |
| Japan/ Japanese |
385 hetero-zygous FH patients
from 350 unrelated families (197
males, 188 females; mean age 45
years). |
Criteria of clinical FH not
stated. |
Not considered |
Screened for
R3500Q |
0 in APOB |
0% (0 of 385
indivi-duals) |
None |
Nohara et al.,
1995 (144) |
| Japan/ Japanese |
200 unrelated Japanese
hetero-zygous FH patients
attending hospitals in Hokuriku
district of Japan. (90 men, 110
women; mean age 45.4 years). |
At least one of: a)TC >
5.9 mmol/l, and <12.9
mmol/l with tendon
xanthomas or b) primary
hypercholes-terolemia and
1st deg relative meeting
criteria a. |
PCR-DGGE* of
all 18 exons.
Mutations
confirmed by
direct sequencing |
PCR-DDGE of
exon 26
(codons 3448-
3562) |
37 in LDLR
0 in APOB |
62.5% (125 of 200
indivi-duals) |
K790X in LDLR
(19.5%)
None in APOB |
Yu et al.,
2002 (102) |
| Malaysia/ Asian |
86 hetero-zygous FH patients (41
males, 45 females; mean age 54
years) attending lipid clinic in
Kuala Lumpur: 72 Chinese, 13
Malay and 1 of Indian origin. |
TC >7.0 mmol/l,
triglyceride < 4.0 mmol/l
and documented
dominant
hypercholes-terolemia in
family. |
PCR-DGGE of all
18 exons.
Mutations
confirmed by
direct sequencing |
Screened for
R3500Q |
18 in LDLR
0 in APOB |
26% (22 of 86
patients) |
None |
Khoo et al.,
2000 (90) |
| Europe |
|
|
|
|
|
|
|
|
| Austria/ Austrians |
950 index patients from 23
subcenters around the country. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
DGGE of promoter
and all 18 exons |
Screened for
R3500Q |
108 in LDLR
1 in APOB |
31% (302 of 950
indivi-duals) |
None |
Schmidt and
Kostner,
2000 (145) |
| Belgium/ Belgian |
70 hetero-zygous FH patients (age
25-65 years) attending lipid clinic
in Southern Belgium. |
TC >95% for sex and
age; triglycerides <250
mg/dl and dominant
pattern of inheritance. |
SSCP and
restriction analysis
of 5’ half of exon 4 |
Screened for
R3500Q |
1 in LDLR
1 in APOB |
23% (16 of 70
indivi-duals) |
C122X in LDLR
(15.7%)
None in APOB |
Descamps et
al. 1997
(146) |
| Belgium/ Belgian |
100 unrelated Flemish speaking
hetero-zygous FH patients from
University Hospital of Antwerp. |
FH defined according to
the Simon Broome
Register criteria (13). |
Screened for 6
mutations known
to occur in the
Netherlands |
Patients with
the R3500Q
mutation were
excluded |
3 in LDLR |
4% (4 of 100
indivi-duals) |
None |
Peeters et al.,
1997 (97) |
| Czech Republic/ Czech |
Members of 352 unrelated
families (551 subjects total)
referred from lipid clinics
throughout the Czech Republic.
Index patients diagnosed with
hetero-zygous FH. |
TC > 8 mmol/l; LDLC >
5 mmol/l; triglycerides <
3.2 mmol/l; family
history of premature
CHD |
HEX- SSCP,
DGGE, and DNA
sequencing of
promoter and
coding region |
Screened for
mutations in
codon 3500
and 3531 of
APOB |
30 in LDLR
1 in APOB |
Study still in progress |
None in LDLR
R3500Q in APOB
(15.6%) |
Kuhrova et
al., 2002
(103) |
| Denmark/ Danish |
97 hetero-zygous FH patients (59
men, 38 women; mean age 48.5+
12.8 years) of Danish descent
from two lipid clinics in
Denmark. |
TC >8.0 mmol/l; LDLC
>6.0 mmol/l; tendon
xanthomata in patient or
1st deg. relative; family
history of
hypercholes-terolemia. |
SSCP and DNA
sequence analysis
of coding region |
Patients with
the R3500Q
mutation were
excluded. |
29 in LDLR |
80.4% (78 of 97
indivi-duals) |
W66G in LDLR
(15.5%)
W23X in LDLR
(12.4%)
W556S in LDLR
(12.4%) |
Jensen et al.,
1999 (94) |
| Denmark/ Danish |
101 unrelated hetero-zygous FH
patients. |
TC> 8mmol/l; LDLC >
6mmol/l; and tendon
xanthoma in patient or 1st
deg. relative. |
Not considered |
Screened for
R3500Q |
1 in APOB |
1.98% (2 of 101
indivi-duals) |
None |
Hansen et al.,
1994 (83) |
France/
French |
94 families comprising of 117
from (78 boys, 39 girls; mean age
5.7 + 3.6 years) from a larger
study of hypercholest-erolemic
children under 15 at teaching
hospitals in France. |
Plasma LDL or LDLC
>95% for French
children; TG < 140
mg/dL; no obesity or
lipid metabolism
disorder; positive family
history of autosomal
dominant
hypercholest-erolemia |
Not considered |
Screened for
R3500Q |
1 in APOB |
3.2% (3 of 94
families) |
None |
Viola et al.,
2001 (147) |
| Germany/ Germans |
100 unrelated hetero-zygous FH
patients (57 males, 43 females;
age 7-68 years) referred from lipid
outpatient clinics. |
TC and LDLC >95%;
positive family history of
hypercholest-erolemia. |
PCR- DGGE and
direct sequencing
of promoter and
coding region |
Screened for
R3500Q |
37 in LDLR
1 in APOB |
56% (56 of 100
indivi-duals) |
None |
Nauck et al.,
2001 (104) |
Greece/
Greek |
150 unrelated hetero-zygous FH
children (age 2 months-16 years)
from all regions of the country. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
Screened for 6
specific mutations |
Screened for
R3500Q |
6 in LDLR
0 in APOB |
60% (90 of 150
indivi-duals) |
S265R in LDLR
(11.3%)
V408M in LDLR
(14.7%)
D528G in LDLR
(22.7%)
None in APOB |
Traeger-
Synodinos et
al., 1998
(148) |
Greece/
Greek
(North-western Greek) |
73 unrelated hetero-zygous FH
patients (34 males, 43 females;
age 8-70 years) referred to lipid
clinic in North-western Greece.
Note: 5 were found to be
homo-zygous for FH based on
molecular character-ization. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
Restriction digest
screening for
previously
identified LDLR
mutations followed
by direct
sequencing of
promoter and
coding region |
Patients with
the R3500Q
mutation were
excluded. |
7 in LDLR |
100% (73 of 73
indivi-duals) |
G571E in LDLR
(23.5%)
D528G in LDLR
(25%)
S265R in LDLR
(16.2%)
V408M in LDLR
(16.2%) |
Miltiadous et
al., 2001 (89) |
| Hungary/ Hungarians |
73 probands with hetero-zygous
FH. 39 identified from family
doctor registries, 34 from lipid
clinic registries. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
Not considered |
Screened for
R3500Q |
1 in APOB |
5.4% (4 of 73
indivi-duals) |
none |
Kalina et al.,
2001
(26) |
Italy/
Italians (Southern
Italy) |
Represent-atives of 51 unrelated
families from southern Italy.
Index patients diagnosed with
hetero-zygous FH. |
Elevated levels of total
plasma cholesterol and
LDLC in at least two
members of the family
and a family history of
coronary disease |
RT-PCR* and
complete cDNA
sequencing of
coding region |
Not consid-ered |
17 in LDLR |
72.5% (37 of 51
families) |
IVS15-3C>A in
LDLR (19.6%) |
Liguori et al.,
2001 (105) |
| The Netherlands and
Canada/ Dutch |
840 hetero-zygous FH patients
referred to a lipid clinic in
Amsterdam and 130 hetero-zygous
FH patients of Dutch descent
referred to lipid clinic in
Vancouver, BC. |
LDLC>95% for age and
sex; tendon xanthomas in
patient or 1st deg.
relative; family history of
premature athero-sclerosis
and
hypercholes-terolemia. |
Not considered |
Screened for
R3500Q |
1 in APOB |
1.9% (18 of 970
indivi-duals) |
None |
Defesche et
al.,
1993(149) |
| The Netherlands/ Dutch |
Hetero-zygous FH patients from
64 lipid clinics around the
country. Number of study
subjects not reported, but
estimated at approxi-mately 2000
(based on 1641 index cases
reported to be about 80% of FH
patients studied). |
FH defined according to
the Dutch lipid clinic
criteria (15). |
DGGE and DNA
sequencing
analysis of
promoter and
coding region |
Screened for
R3500Q |
159 in LDLR
1 in APOB |
~80% |
N543H/2393 ∆ 9
bp in LDLR
(~15%)
1359-1 (G->A) in
LDLR (~10%)
None in APOB |
Fouchier et
al., 2001
(109) |
| Norway/ Norwegian |
476 unrelated patients with
“definite” FH primarily (88%)
referred from a lipid clinic in
Oslo. 266 additional patients with
“probable” FH |
Definite FH defined as:
TC >7.8mmol/L;
xanthomatas and/or
evidence for autosomal
dominant inheritance of
FH. Definition of
probable FH:
hypercholes-terolemia
(>6.5 mmol/L) |
SSCP of promoter
and coding region |
Screened for
R3500Q |
23 in LDLR
1 in APOB |
62% (295 of 476
“definite” FH
indivi-duals) |
G>A 331+1 in
LDLR (28% of
“definite” FH)
None in APOB |
Leren et al.,
1997 (106) |
Poland/
Polish |
30 Polish families with clinical
signs of FH. |
Index cases diagnosed by
plasma LDLC > 260
mg/l; normal triglyceride
level; tendon xanthomas,
and at least one 1st deg.
relative with premature
(age <60 years) IHD* |
SSCP of coding
region |
Screened for
R3500Q |
12 in LDLR
1 in APOB |
57% (17 of 30
families) |
None in LDLR
R3500Q in APOB
(16.7%) |
Gorski et al.,
1998 (150) |
Poland/
Polish |
65 patients (42 male, 23 female)
with hetero-zygous FH identified
in a larger screen of 525 unrelated
patients (age 20-82 years) from
outpatient lipid clinic in Warsaw. |
LDLC >190 mg/l, and
tendon xanthomas in
patient or 1st deg. relative |
Not considered |
SSCP
screening for
R3500Q
confirmed by
mismatch PCR. |
2 in APOB |
10.8% (7 of 65
indivi-duals) |
None in LDLR
R3500Q in APOB
(9.2%) |
Bednarska-
Makaruk et
al.,
2001 (74) |
Spain/
Spanish |
913 hetero-zygous FH patients
referred from lipid clinics
distributed across Spain. |
FH defined according to
the Dutch lipid clinic
criteria (15). |
None |
Screened for
R3500Q |
1 in APOB |
1.4% (13 of 913
indivi-duals) |
None |
Castillo et
al., 2002
(151) |
| Spain/ Spanish |
819 index cases (370 males, 449
females; mean age 47.0) from 68
centers of National Lipid Clinical
Network. 350 analyzed for LDLR
mutations, 819 for APOB |
FH defined according to
the Dutch lipid clinic
criteria (15). |
Southern blot
analysis, SSCP and
restriction digest
analysis of all 18
exons |
Screened for
R3500Q |
86 in LDLR
1 in APOB |
Total number of
patients with
mutations not
specified |
None |
Mata et al.,
2002(152) |
| Spain/ Spanish (Eastern
Spain) |
113 unrelated hetero-zygous FH
patients referred from lipid clinic
in eastern area of Spain. |
TC and LDLC >90%,
triglycerides < 75% and
at least two of: a) tendon
xanthomas, b)
hypercholes-terolemic
children in family, c)
total cholesterol levels
>90%, in at least two
family members, d)
family history of
premature heart disease. |
Southern blot and
PCR-SSCP
analysis of
promoter and
coding region |
SSCP analysis
of APOB |
47 in LDLR
1 in APOB |
69.9% (79 of 113
indivi-duals) |
None |
Garcia-
Garcia et al.,
2001 (107) |
| Spain/ Spanish
(Northeast Spain) |
30 unrelated hetero-zygous FH
patients referred from lipid clinic
in Aragon region. |
TC and LDLC >90%,
triglycerides < 75% and
at least two of: a) tendon
xanthomas, b)
hypercholes-terolemic
children in family, c) TC
>90% in at least two
family members, d)
family history of
premature heart disease. |
SSCP analysis of
exon 2 and exon
4B |
Patients with
the R3500Q
mutation were
excluded. |
2 in LDLR |
33.3% (10 of 30
indivi-duals) |
E10X in LDLR
(20%)
518delG in LDLR
(13.3%) |
Cenarro et
al., 1996
(153) |
| Sweden/ Swedish |
150 hetero-zygous FH patients
referred to hospitals in Stockholm
and Göteborg. |
TC >90% and either a)
tendon xanthomas or b)
at least one relative with
hypercholes-terolemia or
tendon xanthomas |
SSCP analysis of
promoter and
coding region |
Screened for
R3500Q |
31 in LDLR
1 in APOB |
37% (55 of 150
indivi-duals) |
None |
Lind et al.,
2002 (108)
Lind et al.,
1998 (154) |
| Sweden/ Swedish |
127 hetero-zygous FH patients (63
males and 64 females) recruited
from lipid clinics in Sockholm
and Göteborg. |
LDLC>95% for age and
sex; tendon xanthomas in
patient or 1st deg.
relative; family history of
premature athero-sclerosis
and
hypercholes-terolemia. |
Not considered |
Screened for
R3500Q |
1 in APOB |
1.6% (2 of 127
indivi-duals) |
None |
Eggertsen et
al., 1994
(155) |
| United Kingdom/ British |
227 hetero-zygous FH patients
referred from adult or pediatric
lipid clinics or from general
practitioners. |
FH defined according to
the Simon Broome
Register criteria (13). |
SSCP screening of
coding region |
Screened for
R3500Q |
47 in LDLR
2 in APOB |
28% of adults (32%
of definite, 14% of
probable) and 53% of
children |
None |
Heath et al.,
2001 (156) |
| United Kingdom/ British |
173 men and women diagnosed as
FH hetero-zygotes. |
FH defined according to
the Simon Broome
Register criteria (13). |
Not considered |
Screened for
R3500Q
mutation |
1 in APOB |
3.5% (6 of 173
indivi-duals) |
None |
Tybaerg-
Hansen et al.,
1990 (157) |
| United Kingdom and
United States/ British
and American |
791 hetero-zygous FH patients
(~30% with possible FH). 550
referred from lipid clinics in
London, 150 from South-hampton,
60 from Utah. With 20
exceptions, thought to be
unrelated. |
FH defined according to
the Simon Broome
Register criteria (13). |
SSCP screening |
Not consid-ered |
51 in LDLR |
16.9% (134 of 791
indivi-duals) |
None |
Day et al.,
1997 (64) |
| United
Kingdom/ British
(Southam-pton and south
west Hampshire) |
78 probands diagnosed as
hetero-zygous FH from
Southampton and south west
Hampshire |
Elevated LDLC; tendon
xanthomas. |
SSCP of exon 7 |
Not consid-ered |
1 in LDLR |
11.5% (9 of 78
indivi-duals) |
R329X in LDLR
(11.5%) |
Day et al.,
1997 (110) |
| United Kingdom/ British |
562 patients with FH (Subset of
Whittall et al. 1995 (reference
158) |
FH defined according to
the Simon Broome
Register criteria (13). |
Not considered |
Screened for
R3500Q
R3500W and
R3531C |
1 in APOB |
3.0% (17 of 562) |
None |
Talmud et
al., (159) |
United Kingdom/
Irish
(Northern Ireland) |
93 patients attending lipid clinic at
in Belfast. 54 (22 male, 32 female
age 17-66 years) with “definite”
FH. 39 (11 male, 28 female age
20-66 years) with “probable” FH. |
FH defined according to
the Simon Broome
Register criteria (13). |
Not considered |
Screened for
R3500Q |
1 in APOB |
5.3% (2 of 54 with
“definite” FH, 3 of 39
with “probable” FH) |
None |
McClean et
al., 1999
(160) |
| United Kingdom
/ Scottish (Scotland) |
80 apparently unrelated
hetero-zygous FH patients from
lipid clinics in the west of
Scotland with |
At least one of: a) TC >9
mmol/l and LDLC> 7
mmol/l b) one of: family
history of CHD; tendon
xanthoma or
xanthelasma; personal
history of CHD. |
SSCP analysis and
sequencing of exon
4 |
Patients with
the R3500Q
mutation were
excluded. |
7 in LDLR |
18.8% (15 of 80
indivi-duals) |
None |
Lee et al.,
1998 (161) |
| Middle East |
|
|
|
|
|
|
|
|
| Israel |
193 hetero-zygous FH patients
from MED-PED program in
Israel, representing multiple
ethnic/ national groups. |
Hypercholes-terolemia w/ LDLC >95% for age and
sex; tendon xanthomas;
premature IHD in patient
or 1st deg. relative |
PCR, SSCP,
DGGE of promoter
and coding region
for 95 index cases;
screening of 98
cases for identified
mutations |
Screened for
R3500Q |
15 in LDLR
0 in APOB |
41.5% (80 of 193
indivi-duals) |
C660X in LDLR
(18.1%)
∆197 in LDLR
(11.4%)
None in APOB |
Reshef et al.,
1996 (91) |
| Oceania |
|
|
|
|
|
|
|
|
| New Zealand/ British |
14 apparently unrelated
hyperchole-sterolaemic subjects (9
males, 5 females) attending a lipid
clinic in New Zealand. |
Tendon xantho-mata and a
positive family history of
hypercholes-terolaemia
consistant with autosomal
dominant inheritance. |
Screened for
mutations in exon
4 |
Not consid-ered |
2 in LDLR |
14.2% (2 of 14
individuals) |
None |
Theart et al.,
1995 (162) |
* ∆, deletion; CAD, coronary artery disease; CHD, coronary heart disease; DGGE, denaturing gradient gel electrophoresis; HEX, heteroduplex; IHD, ischemic heart disease; LDLC,
low-density lipoprotein cholesterol; PCR, polymerase chain reaction; RT-PCR, reverse transcript polymerase chain reaction; SSCP, single strand conformational polymorphism;
TC: total cholesterol, WHO, World Health Organization,
† Demographic information on gender and age included if reported in paper
‡ PCR, Polymerase Chain Reaction, SSCP, Single Strand Conformational Polymorphism, DGGE, Denaturing Gradient Gel Electrophoresis, HEX, Heteroduplex
§ LDLR and APOB are only listed if that gene was screened
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