1
|
Defesche JC, Gidding SS, Harada-Shiba M,
Hegele RA, Santos RD and Wierzbicki AS: Familial
hypercholesterolaemia. Nat Rev Dis Primers. 3(17093)2017.PubMed/NCBI View Article : Google Scholar
|
2
|
Di Taranto MD, Giacobbe C and Fortunato G:
Familial hypercholesterolemia: A complex genetic disease with
variable phenotypes. Eur J Med Genet. 63(103831)2020.PubMed/NCBI View Article : Google Scholar
|
3
|
Sharifi M, Futema M, Nair D and Humphries
SE: Genetic architecture of familial hypercholesterolaemia. Curr
Cardiol Rep. 19(44)2017.PubMed/NCBI View Article : Google Scholar
|
4
|
Berge KE, Tian H, Graf GA, Yu L, Grishin
NV, Schultz J, Kwiterovich P, Shan B, Barnes R and Hobbs HH:
Accumulation of dietary cholesterol in sitosterolemia caused by
mutations in adjacent ABC transporters. Science. 290:1771–1775.
2000.PubMed/NCBI View Article : Google Scholar
|
5
|
Iacocca MA and Hegele RA: Recent advances
in genetic testing for familial hypercholesterolemia. Expert Rev
Mol Diagn. 17:641–651. 2017.PubMed/NCBI View Article : Google Scholar
|
6
|
Wiegman A, Gidding SS, Watts GF, Chapman
MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Borén J, et
al: European atherosclerosis society consensus panel Familial
hypercholesterolaemia in children and adolescents: Gaining decades
of life by optimizing detection and treatment. Eur Heart J.
36:2425–2437. 2015.PubMed/NCBI View Article : Google Scholar
|
7
|
Van der Graaf A, Avis HJ, Kusters DM,
Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg
FA, Kastelein JJ and Wiegman A: Molecular basis of autosomal
dominant hypercholesterolemia: Assessment in a large cohort of
hypercholesterolemic children. Circulation. 123:1167–1173.
2011.PubMed/NCBI View Article : Google Scholar
|
8
|
Santos RD, Gidding SS, Hegele RA, Cuchel
MA, Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche
JC, et al: Defining severe familial hypercholesterolaemia and the
implications for clinical management: A consensus statement from
the international atherosclerosis society severe familial
hypercholesterolemia panel. Lancet Diabetes Endocrinol. 4:850–861.
2016.PubMed/NCBI View Article : Google Scholar
|
9
|
Harada-Shiba M, Ohta T, Ohtake A, Ogura M,
Dobashi K, Nohara A, Yamashita S and Yokote K: Joint Working Group
by Japan Pediatric Society and Japan Atherosclerosis Society for
Making Guidance of Pediatric Familial Hypercholesterolemia.
Guidance for pediatric familial hypercholesterolemia 2017. J
Atheroscler Thromb. 25:539–553. 2018.PubMed/NCBI View Article : Google Scholar
|
10
|
Ramaswamia U, Humphries SE,
Priestley-Barnhamc L, Green P, Wald DS, Capps N, Andersong M, Dale
P and Morris AA: Current management of children and young people
with heterozygous familial hypercholesterolaemia-HEART UK statement
of care. Atherosclerosis. 290:1–8. 2019.PubMed/NCBI View Article : Google Scholar
|
11
|
Martin AC, Gidding SS, Wiegman A and Watts
GF: Knowns and unknowns in the care of pediatric familial
hypercholesterolemia. J Lipid Res. 58:1765–1776. 2017.PubMed/NCBI View Article : Google Scholar
|
12
|
Zakharova FM, Damgaard D, Mandelshtam MY,
Golubkov VI, Nissen PH, Nilsen GG, Stenderup A, Lipovetsky BM,
Konstantinov VO, Denisenko AD, et al: Familial hypercholesterolemia
in St-Petersburg: The known and novel mutations found in the low
density lipoprotein receptor gene in Russia. BMC Med Genet.
6(6)2005.PubMed/NCBI View Article : Google Scholar
|
13
|
Malyshev PP, Meshkov AN, Kotova LA and
Kuharchuk VV: Familial defect of apolipoprotein B-100: Molecular
disease basis and clinic-biochemical characteristics of the
patients. Cardiovascular Ther Prevention. 6:40–45. 2007.(In
Russian).
|
14
|
Korneva VA, Kuznetsova TY, Golovina AS,
Vasilyev VB and Mandelshtam MY: Familial hypercholesterolemia
mutations in Petrozavodsk: No similarity to St. Petersburg mutation
spectrum. BMC Med Genet. 14(128)2013.PubMed/NCBI View Article : Google Scholar
|
15
|
Hardin AP and Hackell JM: Committee on
Practice and Ambulatory Medicine. Age limits in pediatrics.
Pediatrics. 140(e20172151)2017.PubMed/NCBI View Article : Google Scholar
|
16
|
Watts GF, Sullivan DR, Poplawski N, van
Bockxmeer F, Hamilton-Craig I, Clifton PM, O'Brien R, Bishop W,
George P, Barter PJ, et al: Familial hypercholesterolaemia: A model
of care for Australasia. Atheroscler Suppl. 12:221–263.
2011.PubMed/NCBI View Article : Google Scholar
|
17
|
Di Taranto MD, de Falco R, Guardamagna O,
Massini G, Giacobbe C, Auricchio R, Malamisura B, Proto M, Palma D,
Greco L and Fortunato G: Lipid profile and genetic status in a
familial hypercholesterolemia pediatric population: Exploring the
LDL/HDL ratio. Clin Chem Lab Med. 57:1102–1110. 2019.PubMed/NCBI View Article : Google Scholar
|
18
|
1000 Genomes Project Consortium. Auton A,
Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL,
McCarthy S, McVean GA and Abecasis GR: A global reference for human
genetic variation. Nature. 526:68–74. 2015.PubMed/NCBI View Article : Google Scholar
|
19
|
DePristo MA, Banks E, Poplin R, Garimella
KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA,
Hanna M, et al: A framework for variation discovery and genotyping
using next-generation DNA sequencing data. Nat Genet. 43:491–498.
2011.PubMed/NCBI View
Article : Google Scholar
|
20
|
Van der Auwera GA, Carneiro MO, Hartl C,
Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen
D, Thibault J, et al: From Fastq data to high-confidence variant
calls: The genome analysis toolkit best practices pipeline. Curr
Protoc Bioinformatics. 43:11.10.1–11.10.33. 2013.PubMed/NCBI View Article : Google Scholar
|
21
|
Auton A, Brooks LD, Durbin RM, Garrison
EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA and
Abecasis GR: A global reference for human genetic variation.
Nature. 526:68–74. 2015.PubMed/NCBI View Article : Google Scholar
|
22
|
Lek M, Karczewski KJ, Minikel EV and
Samocha KE: Analysis of protein-coding genetic variation in 60,706
humans. Nature. 536:285–291. 2016.PubMed/NCBI View Article : Google Scholar
|
23
|
Liu X, Wu C, Li C, Boerwinkle E, Jolla L
and Genome H: dbNSFP v3.0: A one-stop database of functional
predictions and annotations for human non-synonymous and splice
site SNVs. Hum Mutat. 37:235–241. 2016.PubMed/NCBI View Article : Google Scholar
|
24
|
Barbitoff YA, Skitchenko RK, Poleshchuk
OI, Shikov AE, Serebryakova EA, Nasykhova YA, Polev DE, Shuvalova
AR, Shcherbakova IV, Fedyakov MA, et al: Whole-exome sequencing
provides insights into monogenic disease prevalence in Northwest
Russia. Mol Genet Genomic Med. 7(e964)2019.PubMed/NCBI View Article : Google Scholar
|
25
|
Desmet FO, Hamroun D, Lalande M,
Collod-Béroud G, Claustres M and Béroud C: Human splicing finder:
An online bioinformatics tool to predict splicing signals. Nucleic
Acids Res. 37(e67)2009.PubMed/NCBI View Article : Google Scholar
|
26
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American College
of Medical Genetics and Genomics and the Association for Molecular
Pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
27
|
Glotov OS, Serebryakova EA, Turkunova MS,
Efimova OA, Glotov AS, Barbitoff YA, Nasykhova YA, Predeus AV,
Polev DE, Fedyakov MA, et al: Whole-exome sequencing for monogenic
diabetes in Russian children reveals wide spectrum of genetic
variants in MODY-related and unrelated genes. Mol Med Rep.
20:4905–4914. 2019.PubMed/NCBI View Article : Google Scholar
|
28
|
Arias-Moreno X, Velazquez-Campoy A,
Rodríguez JC, Pocoví M and Sancho J: Mechanism of low density
lipoprotein (LDL) release in the endosome: Implications of the
stability and Ca2+ affinity of the fifth binding module of the LDL
receptor. J Biol Chem. 283:22670–22679. 2008.PubMed/NCBI View Article : Google Scholar
|
29
|
Koivisto UM, Viikari JS and Kontula K:
Molecular characterization of minor gene rearrangements in Finnish
patients with heterozygous familial hypercholesterolemia:
Identification of two common missense mutations (Gly823->Asp and
Leu380->His) and eight rare mutations of the LDL receptor gene.
Am J Hum Genet. 57:789–797. 1995.PubMed/NCBI
|
30
|
Maglio C, Mancina RM, Motta BM, Stef M,
Pirazzi C, Palacios L, Askaryar N, Boren J, Wiklund O and Romeo S:
Genetic diagnosis of familial hypercholesterolaemia by targeted
next-generation sequencing. J Intern Med. 276:396–403.
2014.PubMed/NCBI View Article : Google Scholar
|
31
|
Norsworthy PJ, Vandrovcova J, Thomas ERA,
Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH,
Dominiczak AF, et al: Targeted genetic testing for familial
hypercholesterolaemia using next generation sequencing: A
population-based study. BMC Med Genet. 15(70)2014.PubMed/NCBI View Article : Google Scholar
|
32
|
Radovica-Spalvina I, Latkovskis G,
Silamikelis I, Fridmanis D, Elbere I, Ventins KV, Ozola G, Erglis A
and Klovins J: Next-generation-sequencing-based identification of
familial hypercholesterolemiarelated mutations in subjects with
increased LDL-C levels in a latvian population. BMC Med Genet.
16(86)2015.PubMed/NCBI View Article : Google Scholar
|
33
|
Johansen CT, Dubé JB, Loyzer MN, MacDonald
A, Carter DE, McIntyre AD, Cao H, Wang J, Robinson JF and Hegele
RA: LipidSeq: A next-generation clinical resequencing panel for
monogenic dyslipidemias. J Lipid Res. 55:765–772. 2014.PubMed/NCBI View Article : Google Scholar
|
34
|
Vandrovcova J, Thomas ER, Atanur SS,
Norsworthy PJ, Neuwirth C, Tan Y, Kasperviciute D, Biggs J, Game L,
Mueller M, et al: The use of next-generation sequencing in clinical
diagnosis of familial hypercholesterolemia. Genet Med. 15:948–957.
2013.PubMed/NCBI View Article : Google Scholar
|
35
|
Motazacker MM, Pirruccello J, Huijgen R,
Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein
JJ, Hovingh GK, et al: Advances in genetics show the need for
extending screening strategies for autosomal dominant
hypercholesterolaemia. Eur Heart J. 33:1360–1366. 2012.PubMed/NCBI View Article : Google Scholar
|
36
|
Reiman A, Pandey S, Lloyd KL, Dyer N, Khan
M, Crockard M, Latten MJ, Watson TL, Cree IA and Grammatopoulos DK:
Molecular testing for familial hypercholesterolaemia-associated
mutations in a UK-based cohort: Development of an NGS-based method
and comparison with multiplex polymerase chain reaction and
oligonucleotide arrays. Ann Clin Biochem. 53:654–662.
2016.PubMed/NCBI View Article : Google Scholar
|
37
|
Wang J, Dron JS, Ban MR, Robinson JF, Mc
Intyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, et al:
Polygenic versus monogenic causes of hypercholesterolemia
ascertained clinically. Arterioscler Thromb Vasc Biol.
36:2439–2445. 2016.PubMed/NCBI View Article : Google Scholar
|
38
|
Ashfield-Watt P, Haralambos K, Edwards R,
Townsend D, Gingell R, Wa Li K, Humphries SE and McDowell I:
Estimation of the prevalence of cholesteryl ester storage disorder
in a cohort of patients with clinical features of familial
hypercholesterolaemia. Ann Clin Biochem. 56:112–117.
2019.PubMed/NCBI View Article : Google Scholar
|
39
|
Fouchier SW, Kastelein JJ and Defesche JC:
Update of the molecular basis of familial hypercholesterolemia in
The Netherlands. Hum Mutat. 26:550–556. 2005.PubMed/NCBI View Article : Google Scholar
|
40
|
Chmara M, Wasag B, Zuk M, Kubalska J,
Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC,
Rynkiewicz A and Limon J: Molecular characterization of Polish
patients with familial hypercholesterolemia: Novel and recurrent
LDLR mutations. J Appl Genet. 51:95–106. 2010.PubMed/NCBI View Article : Google Scholar
|
41
|
Fernández-Higuero JA, Etxebarria A,
Benito-Vicente A, Alves AC, Arrondo JL, Ostolaza H, Bourbon M and
Martin C: Structural analysis of APOB variants, p.(Arg3527Gln),
p.(Arg1164Thr) and p.(Gln4494del), causing Familial
Hypercholesterolaemia provides novel insights into variant
pathogenicity. Sci Rep. 5(18184)2015.PubMed/NCBI View Article : Google Scholar
|
42
|
Alves AC, Etxebarria A, Soutar AK, Martin
C and Bourbon M: Novel functional APOB mutations outside
LDL-binding region causing familial hypercholesterolaemia. Hum Mol
Genet. 23:1817–1828. 2013.PubMed/NCBI View Article : Google Scholar
|
43
|
Rios J, Stein E, Shendure J, Hobbs HH and
Cohen JC: Identification by whole-genome resequencing of gene
defect responsible for severe hypercholesterolemia. Hum Mol Genet.
19:4313–4318. 2010.PubMed/NCBI View Article : Google Scholar
|
44
|
Mannucci L, Guardamagna O, Bertucci P,
Pisciotta L, Liberatoscioli L, Bertolini S, Irace C, Gnasso A,
Federici G and Cortese C: Beta-sitosterolaemia: A new nonsense
mutation in the ABCG5 gene. Eur J Clin Invest. 37:997–1000.
2007.PubMed/NCBI View Article : Google Scholar
|
45
|
Tada H, Kawashiri MA, Takata M, Matsunami
K, Imamura A, Matsuyama M, Sawada H, Nunoi H, Konno T, Hayashi K,
Nohara A, et al: Infantile cases of Sitosterolaemia with novel
mutations in the ABCG5 gene: Extreme hypercholesterolaemia is
exacerbated by breastfeeding. JIMD Rep. 21:115–122. 2015.PubMed/NCBI View Article : Google Scholar
|
46
|
Li Y, Salfelder A, Schwab KO, Grünert SC,
Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U,
Zabel B, Köttgen A and Lausch E: Against all odds: Blended
phenotypes of three single-gene defects. Eur J Hum Genet.
24:1274–1279. 2016.PubMed/NCBI View Article : Google Scholar
|
47
|
Lu K, Lee MH, Hazard S, Brooks-Wilson A,
Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I,
et al: Two Genes that map to the STSL locus cause Sitosterolemia:
Genomic structure and spectrum of mutations involving Sterolin-1
and Sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum
Genet. 69:278–290. 2001.PubMed/NCBI View
Article : Google Scholar
|
48
|
Lee JY, Kinch LN, Borek DM, Wang J, Wang
J, Urbatsch IL, Xie XS, Grishin NV, Cohen JC, Otwinowski Z, et al:
Crystal structure of the human sterol transporter ABCG5/ABCG8.
Nature. 533:561–564. 2016.PubMed/NCBI View Article : Google Scholar
|
49
|
Graf GA, Cohen JC and Hobbs HH: Missense
mutations in ABCG5 and ABCG8 disrupt heterodimerization and
trafficking. J Biol Chem. 279:24881–24888. 2004.PubMed/NCBI View Article : Google Scholar
|
50
|
Tichý L, Freiberger T, Zapletalová P,
Soska V, Ravcuková B and Fajkusová L: The molecular basis of
familial hypercholesterolemia in the Czech Republic: Spectrum of
LDLR mutations and genotype-phenotype correlations.
Atherosclerosis. 223:401–408. 2012.PubMed/NCBI View Article : Google Scholar
|
51
|
Bertolini S, Pisciotta L, Rabacchi C,
Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M and
Calandra S: Spectrum of mutations and phenotypic expression in
patients with autosomal dominant hypercholesterolemia identified in
Italy. Atherosclerosis. 227:342–348. 2013.PubMed/NCBI View Article : Google Scholar
|
52
|
Lind S, Eriksson M, Rystedt E, Wiklund O,
Angelin B and Eggertsen G: Low frequency of the common Norwegian
and Finnish LDL-receptor mutations in Swedish patients with
familial hypercholesterolaemia. J Intern Med. 244:19–25.
1998.PubMed/NCBI View Article : Google Scholar
|
53
|
Solberg K, Rødningen OK, Tonstad S, Ose L
and Leren TP: Familial hypercholesterolaemia caused by a non-sense
mutation in codon 329 of the LDL receptor gene. Scand J Clin Lab
Invest. 54:605–609. 1994.PubMed/NCBI View Article : Google Scholar
|
54
|
Górski B, Kubalska J, Naruszewicz M and
Lubiński J: LDL-R and Apo-B-100 gene mutations in Polish familial
hypercholesterolemias. Hum Genet. 102:562–565. 1998.PubMed/NCBI View Article : Google Scholar
|
55
|
Brænne I, Kleinecke M, Reiz B, Graf E,
Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger
T, et al: Systematic analysis of variants related to familial
hypercholesterolemia in families with premature myocardial
infarction. Eur J Hum Genet. 24:191–197. 2016.PubMed/NCBI View Article : Google Scholar
|
56
|
Kuhrová V, Francová H, Zapletalová P,
Freiberger T, Fajkusová L, Hrabincová E, Slováková R and Kozák L:
Spectrum of low density lipoprotein receptor mutations in Czech
hypercholesterolemic patients. Hum Mutat. 18(253)2001.PubMed/NCBI View Article : Google Scholar
|
57
|
Brusgaard K, Jordan P, Hansen H, Hansen AB
and Hørder M: Molecular genetic analysis of 1053 Danish individuals
with clinical signs of familial hypercholesterolemia. Clin Genet.
69:277–283. 2006.PubMed/NCBI View Article : Google Scholar
|
58
|
Leren TP, Manshaus T, Skovholt U, Skodje
T, Nossen IE, Teie C, Sørensen S and Bakken KS: Application of
molecular genetics for diagnosing familial hypercholesterolemia in
Norway: Results from a family-based screening program. Semin Vasc
Med. 4:75–85. 2004.PubMed/NCBI View Article : Google Scholar
|
59
|
Duskova L, Kopeckova L, Jansova E, Tichy
L, Freiberger T, Zapletalova P, Soskac V, Ravcukova B and Fajkusova
L: An APEX-based genotyping microarray for the screening of 168
mutations associated with familial hypercholesterolemia.
Atherosclerosis. 216:139–145. 2011.PubMed/NCBI View Article : Google Scholar
|
60
|
Lind S, Rystedt E, Eriksson M, Wiklund O,
Angelin B and Eggertsen G: Genetic characterization of Swedish
patients with familial hypercholesterolemia: A heterogeneous
pattern of mutations in the LDL receptor gene. Atherosclerosis.
163:399–407. 2002.PubMed/NCBI View Article : Google Scholar
|
61
|
Nauck MS, Köster W, Dörfer K, Eckes J,
Scharnagl H, Gierens H, Nissen H, Nauck MA, Wieland H and März W:
Identification of recurrent and novel mutations in the LDL receptor
gene in German patients with familial hypercholesterolemia. Hum
Mutat. 18:165–166. 2001.PubMed/NCBI View Article : Google Scholar
|
62
|
Marduel M, Carrié A, Sassolas A, Devillers
M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro
A, Munnich A, et al: Molecular spectrum of autosomal dominant
hypercholesterolemia in France. Hum Mutat. 31:E1811–E1824.
2010.PubMed/NCBI View Article : Google Scholar
|
63
|
Day IN, Whittall RA, O'Dell SD, Haddad L,
Bolla MK, Gudnason V and Humphries SE: Spectrum of LDL receptor
gene mutations in heterozygous familial hypercholesterolemia. Hum
Mutat. 10:116–127. 1997.PubMed/NCBI View Article : Google Scholar
|
64
|
Voevoda MI, Kulikov IV, Shakhtshneider EV,
Maksimov VN, Pilipenko IV, Tereschenkov IP, Kobzev VF, Romaschenko
AG and Nikitin YP: The spectrum of mutations in the low-density
lipoprotein receptor Gene in the Russian Population. Genetics.
44:1191–1194. 2008.PubMed/NCBI
|
65
|
Benito-Vicente A, Uribe KB, Jebari S,
Galicia-Garcia U, Ostolaza H and Martin C: Validation of LDLr
Activity as a tool to improve genetic diagnosis of familial
hypercholesterolemia: A retrospective on functional
characterization of LDLr variants. Int J Mol Sci.
19(1676)2018.PubMed/NCBI View Article : Google Scholar
|
66
|
Mak YT, Pang CP, Tomlinson B, Zhang J,
Chan YS, Mak TW and Masarei JR: Mutations in the low-density
lipoprotein receptor gene in Chinese familial hypercholesterolemia
patients. Arterioscler Thromb Vasc Biol. 18:1600–1605.
1998.PubMed/NCBI View Article : Google Scholar
|
67
|
Hansel B, Carrié A, Brun-Druc N, Leclert
G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ and Bruckert E:
Premature atherosclerosis is not systematic in phytosterolemic
patients: Severe hypercholesterolemia as a confounding factor in
five subjects. Atherosclerosis. 234:162–168. 2014.PubMed/NCBI View Article : Google Scholar
|
68
|
Du F, Hui Y, Zhang M, Linton MF, Fazio S
and Fan D: Novel Domain Interaction Regulates Secretion of
Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Protein. J
Biol Chem. 286:43054–43061. 2011.PubMed/NCBI View Article : Google Scholar
|
69
|
Kaya E, Kayikçioğlu M, Vardarli AT, Eroğlu
Z, Payzın S and Can L: PCSK 9 gain-of-function mutations (R496W and
D374Y) and clinical cardiovascular characteristics in a cohort of
Turkish patients with familial hypercholesterolemia. Anatol J
Cardiol. 18:266–272. 2017.PubMed/NCBI View Article : Google Scholar
|