Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

BMC Cardiovascular Disorders

Volumn 14, Issue 1, 2014, Pages

[No Author Info available]

Author keywords

Familial hypercholesterolemia; Myocardial infarction; Whole exome sequencing

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CORONARY ARTERY BYPASS GRAFT; CORONARY ARTERY DISEASE; EXTENDED FAMILY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART INFARCTION; HUMAN; LDLR GENE; MALE; WHOLE EXOME SEQUENCING;

EID: 84907051794     PISSN: None     EISSN: 14712261     Source Type: Journal    
DOI: 10.1186/1471-2261-14-108     Document Type: Article

References (32)

1. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973, 52:1544-1568. 10.1172/JCI107332, 302426, 4718953.
2. Neefjes LA, Ten Kate GJ, Alexia R, Nieman K, Galema-Boers AJ, Langendonk JG, Weustink AC, Mollet NR, Sijbrands EJ, Krestin GP, de Feyter PJ. Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis 2011, 219:721-727. 10.1016/j.atherosclerosis.2011.09.052, 22018443.
3. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013, 381:1293-1301. 10.1016/S0140-6736(12)62127-8, 23433573.
4. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Boren J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjaerg-Hansen A,. European Atherosclerosis Society Consensus P Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013, 34:3478. 10.1093/eurheartj/eht273, 3844152, 23956253, European Atherosclerosis Society Consensus P.
5. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ. Familial hypercholesterolaemia: a pressing issue for European health care. Atherosclerosis 2013, 231:223-226. 10.1016/j.atherosclerosis.2013.09.019, 24267231.
6. Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, Konig IR, Cazier JB, Johansson A, Hall AS, Lee JY, Willer CJ, Chambers JC, Esko T, Folkersen L, Goel A, Grundberg E, Havulinna AS, Ho WK, Hopewell JC, Eriksson N, Kleber ME, Kristiansson K, Lundmark P, et al. CARDIoGRAMplusC4D-Consortium Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 2013, 45:25-33. 3679547, 23202125, CARDIoGRAMplusC4D-Consortium.
7. Po¨tzsch O, Weinmann J, Haustein T. Geburtentrends und familiensituation in deutschland. 2012, Available from Statistisches Bundesamt: http://www.destatis.de.
8. Office-for-National-Statistics Family size in 2012 2013, Available from: http://www.ons.gov.uk/, Office-for-National-Statistics.
9. Reiner Z, Catapano AL, De Backer G, Graham I, Taskinen MR, Wiklund O, Agewall S, Alegria E, Chapman MJ, Durrington P, Erdine S, Halcox J, Hobbs RH, Kjekshus JK, Perrone Filardi P, Riccardi G, Storey RF, David W,. Clinical Practice Guidelines Committee of the Spanish Society of C [ESC/EAS Guidelines for the management of dyslipidaemias]. Rev Esp Cardiol 2011, 64:1168 e1161-1168 e1160. Clinical Practice Guidelines Committee of the Spanish Society of C.
10. Minhas R, Humphries SE, Qureshi N, Neil HA, Group NGD. Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia. Heart 2009, 95:584-587. discussion 587-591.
11. Third Report of the Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). [http://www.cdc.gov/].
12. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012, 97:3956-3964. 10.1210/jc.2012-1563, 22893714.
13. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE,. National Lipid Association Expert Panel on Familial H Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S1-8. 10.1016/j.jacl.2011.04.003, 21600525, National Lipid Association Expert Panel on Familial H.
14. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001, 357:165-168. 10.1016/S0140-6736(00)03587-X, 11213091.
15. Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sorensen S, Bakken KS. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004, 4:75-85.
16. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010, 38:e164. 10.1093/nar/gkq603, 2938201, 20601685.
17. Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012, 6:80-92. 10.4161/fly.19695, 3679285, 22728672.
18. Campbell N, Sinagra G, Jones KL, Slavov D, Gowan K, Merlo M, Carniel E, Fain PR, Aragona P, Di Lenarda A, Mestroni L, Taylor MR. Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. PLoS One 2013, 8:e78104. 10.1371/journal.pone.0078104, 3812167, 24205113.
19. Bras J, Guerreiro R, Hardy J. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci 2012, 13:453-464.
20. Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994, 8:380-386. 10.1038/ng1294-380, 7894490.
21. Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Braenne I, Nothen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, et al. Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature 2013, 504:432-436. 10.1038/nature12722, 24213632.
22. Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012, 20:490-497. 10.1038/ejhg.2011.258, 3330229, 22258526.
23. Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012, 76:387-401. 10.1111/j.1469-1809.2012.00724.x, 22881376.
24. Futema M, Plagnol V, Whittall RA, Neil HA, Simon Broome Register G, Humphries SE,. Uk10K Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet 2012, 49:644-649. 10.1136/jmedgenet-2012-101189, 3475071, 23054246, Uk10K.
25. Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007, 4:214-225. 10.1038/ncpcardio0836, 17380167.
26. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004, 160:407-420. 10.1093/aje/kwh236, 15321837.
27. Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. Hum Genet 1997, 100:266-270. 10.1007/s004390050503, 9254862.
28. Lombardi P, Sijbrands EJ, van de Giessen K, Smelt AH, Kastelein JJ, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995, 36:860-867.
29. Kusters DM, Huijgen R, Defesche JC, Vissers MN, Kindt I, Hutten BA, Kastelein JJ. Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes. Neth Heart J 2011, 19:175-182. 10.1007/s12471-011-0076-6, 3058324,3058324, 21475731.
30. Rodningen OK, Tonstad S, Saugstad OD, Ose L, Leren TP. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. Hum Mutat 1999, 13:186-196. 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K, 10090473.
31. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992, 1:445-466. 10.1002/humu.1380010602, 1301956.
32. Hobbs HH, Leitersdorf E, Goldstein JL, Brown MS, Russell DW. Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest 1988, 81:909-917. 10.1172/JCI113402, 442544, 3343347.