|
1
|
Ackerman MJ, Priori SG, Willems S, Berul
C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R,
et al Heart Rhythm Society (HRS); European Heart Rhythm Association
(EHRA): HRS/EHRA expert consensus statement on the state of genetic
testing for the channelopathies and cardiomyopathies: This document
was developed as a partnership between the Heart Rhythm Society
(HRS) and the European Heart Rhythm Association (EHRA). Europace.
13:1077–1109. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H,
Lu S, Wu P, Zhang Y, Shen L, et al: Prevalence of idiopathic
hypertrophic cardiomyopathy in China: A population-based
echocardiographic analysis of 8080 adults. Am J Med. 116:14–18.
2004. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Geisterfer-Lowrance AA, Kass S, Tanigawa
G, Vosberg HP, McKenna W, Seidman CE and Seidman JG: A molecular
basis for familial hypertrophic cardiomyopathy: A beta cardiac
myosin heavy chain gene missense mutation. Cell. 62:999–1006. 1990.
View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Pinto YM, Wilde AA, van Rijsingen IA,
Christiaans I, Deprez RH and Elliott PM: Clinical utility gene card
for: Hypertrophic cardiomyopathy (type 1–14). Eur J Hum Genet.
19:192011. View Article : Google Scholar
|
|
5
|
Seidman CE and Seidman JG: Identifying
sarcomere gene mutations in hypertrophic cardiomyopathy: A personal
history. Circ Res. 108:743–750. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Brauch KM, Karst ML, Herron KJ, de Andrade
M, Pellikka PA, Rodeheffer RJ, Michels VV and Olson TM: Mutations
in ribonucleic acid binding protein gene cause familial dilated
cardiomyopathy. J Am Coll Cardiol. 54:930–941. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Zhao Y, Feng Y, Zhang YM, Ding XX, Song
YZ, Zhang AM, Liu L, Zhang H, Ding JH and Xia XS: Targeted
next-generation sequencing of candidate genes reveals novel
mutations in patients with dilated cardiomyopathy. Int J Mol Med.
36:1479–1486. 2015.PubMed/NCBI
|
|
8
|
Gómez J, Reguero JR, Morís C, Martín M,
Alvarez V, Alonso B, Iglesias S and Coto E: Mutation analysis of
the main hyper-trophic cardiomyopathy genes using multiplex
amplification and semiconductor next-generation sequencing. Circ J.
78:2963–2971. 2014. View Article : Google Scholar
|
|
9
|
Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu
YT, Han YC, Cao J, Zhang SY and Zhang X: Novel phenotype-genotype
correlations of restrictive cardiomyopathy with myosin-binding
protein C (MYBPC3) gene mutations tested by next-generation
sequencing. J Am Heart Assoc. 4:42015.
|
|
10
|
Mango R, Luchetti A, Sangiuolo R,
Ferradini V, Briglia N, Giardina E, Ferrè F, Helmer Citterich M,
Romeo F, Novelli G, et al: Next heneration sequencing and linkage
analysis for the molecular diagnosis of a novel overlapping
syndrome characterized by hypertrophic cardiomyopathy and typical
electrical instability of Brugada syndrome. Circ J. 80:938–949.
2016. View Article : Google Scholar
|
|
11
|
Glotov AS, Kazakov SV, Zhukova EA,
Alexandrov AV, Glotov OS, Pakin VS, Danilova MM, Poliakova IV,
Niyazova SS, Chakova NN, et al: Targeted next-generation sequencing
(NGS) of nine candidate genes with custom AmpliSeq in patients and
a cardiomyopathy risk group. Clin Chim Acta. 446:132–140. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Millat G, Chanavat V and Rousson R:
Evaluation of a new NGS method based on a custom AmpliSeq library
and Ion Torrent PGM sequencing for the fast detection of genetic
variations in cardiomyopathies. Clin Chim Acta. 433:266–271. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Zhang J, He J, Zeng XH, Ge SJ, Huang Y, Su
J, Ding XM, Yang JQ, Cao YJ, Chen H, et al: Genetic heterogeneity
of the β-globin gene in various geographic populations of Yunnan in
southwestern China. PLoS One. 10:e01229562015. View Article : Google Scholar
|
|
14
|
Zhao Y, Feng Y, Zhang YM, Ding XX, Song
YZ, Zhang AM, Liu L, Zhang H, Ding JH and Xia XS: Targeted
next-generation sequencing reveals hot spots and doubly
heterozygous mutations in chinese patients with familial
Cardiomyopathy. BioMed Res Int. 2015:5618192015.PubMed/NCBI
|
|
15
|
Zhao Y, Cao H, Song Y, Feng Y, Ding X,
Pang M, Zhang Y, Zhang H, Ding J and Xia X: Identification of novel
mutations including a double mutation in patients with inherited
cardiomyopathy by a targeted sequencing approach using the Ion
Torrent PGM system. Int J Mol Med. 37:1511–1520. 2016.PubMed/NCBI
|
|
16
|
Gersh BJ, Maron BJ, Bonow RO, Dearani JA,
Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, et
al American College of Cardiology Foundation/American Heart
Association Task Force on Practice Guidelines: 2011 ACCF/AHA
Guideline for the Diagnosis and Treatment of Hypertrophic
Cardiomyopathy: a report of the American College of Cardiology
Foundation/American Heart Association Task Force on Practice
Guidelines. Developed in collaboration with the American
Association for Thoracic Surgery, American Society of
Echocardiography, American Society of Nuclear Cardiology, Heart
Failure Society of America, Heart Rhythm Society, Society for
Cardiovascular Angiography and Interventions, and Society of
Thoracic Surgeons. J Am Coll Cardiol. 58:e212–e260. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Sikkema-Raddatz B, Johansson LF, de Boer
EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts
KY, van Tintelen JP, Sijmons RH, Jongbloed JD, et al: Targeted
next-generation sequencing can replace Sanger sequencing in
clinical diagnostics. Hum Mutat. 34:1035–1042. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Tarabeux J, Zeitouni B, Moncoutier V,
Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E,
Golmard L, et al: Streamlined ion torrent PGM-based diagnostics:
BRCA1 and BRCA2 genes as a model. Eur J Hum Genet. 22:535–541.
2014. View Article : Google Scholar :
|
|
19
|
Maron BJ, Maron MS and Semsarian C:
Genetics of hypertrophic cardiomyopathy after 20 years: Clinical
perspectives. J Am Coll Cardiol. 60:705–715. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Liu X, Jiang T, Piao C, Li X, Guo J, Zheng
S, Zhang X, Cai T and Du J: Screening Mutations of MYBPC3 in 114
Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted
Capture and Next-generation Sequencing. Sci Rep. 5:114112015.
View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Schwarz JM, Rödelsperger C, Schuelke M and
Seelow D: MutationTaster evaluates disease-causing potential of
sequence alterations. Nat Methods. 7:575–576. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Zou Y, Wang J, Liu X, Wang Y, Chen Y, Sun
K, Gao S, Zhang C, Wang Z, Zhang Y, et al: Multiple gene mutations,
not the type of mutation, are the modifier of left ventricle
hypertrophy in patients with hypertrophic cardiomyopathy. Mol Biol
Rep. 40:3969–3976. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Millat G, Bouvagnet P, Chevalier P,
Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L,
Eicher JC, et al: Prevalence and spectrum of mutations in a cohort
of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J
Med Genet. 53:261–267. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Arai S, Matsuoka R, Hirayama K, Sakurai H,
Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joho K, et al:
Missense mutation of the beta-cardiac myosin heavy-chain gene in
hypertrophic cardiomyopathy. Am J Med Genet. 58:267–276. 1995.
View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Van Driest SL, Vasile VC, Ommen SR, Will
ML, Tajik AJ, Gersh BJ and Ackerman MJ: Myosin binding protein C
mutations and compound heterozygosity in hypertrophic
cardiomyopathy. J Am Coll Cardiol. 44:1903–1910. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Richard P, Charron P, Carrier L, Ledeuil
C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M,
et al: EUROGENE Heart Failure Project: Hypertrophic cardiomyopathy:
Distribution of disease genes, spectrum of mutations, and
implications for a molecular diagnosis strategy. Circulation.
107:2227–2232. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Kubo T, Kitaoka H, Okawa M, Baba Y, Hirota
T, Hayato K, Yamasaki N, Matsumura Y, Otsuka H, Arimura T, et al:
Genetic screening and double mutation in Japanese patients with
hypertrophic cardiomyopathy. Circ J. 75:2654–2659. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Emrahi L, Tabrizi MT, Gharehsouran J,
Ardebili SM and Estiar MA: Spectrum of MYBPC3 gene mutations in
patients with hypertrophic cardiomyopathy, reporting two novel
mutations from north-west of Iran. Clin Lab. 62:757–764. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Chiou KR, Chu CT and Charng MJ: Detection
of mutations in symptomatic patients with hypertrophic
cardiomyopathy in Taiwan. J Cardiol. 65:250–256. 2015. View Article : Google Scholar
|
|
30
|
Honglin W: An investigation on
consanguineous marriage in nine ethnic groups of Yunnan province.
Acta Anthropologica Sinica. 4:0121998.
|
|
31
|
Lin M, Chu CC, Chang SL, Lee HL, Loo JH,
Akaza T, Juji T, Ohashi J and Tokunaga K: The origin of Minnan and
Hakka, the so-called 'Taiwanese', inferred by HLA study. Tissue
Antigens. 57:192–199. 2001. View Article : Google Scholar : PubMed/NCBI
|
