Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

被引：29

作者：

Jaaskelainen, Pertti ^{[1
]}

Helio, Tiina ^{[2
]}

Aalto-Setala, Katriina ^{[3
]}

Kaartinen, Maija ^{[2
]}

Ilveskoski, Erkki ^{[3
]}

Hamalainen, Liisa ^{[4
]}

Melin, John ^{[5
]}

Nieminen, Markku S. ^{[2
]}

Laakso, Markku ^{[6
]}

Kuusisto, Johanna ^{[6
]}

Kervinen, Helena ^{[7
]}

Mustonen, Juha ^{[8
]}

Juvonen, Jukka ^{[9
]}

Niemi, Mari ^{[10
]}

Uusimaa, Paavo ^{[11
]}

Huttunen, Matti ^{[12
]}

Kotila, Matti ^{[13
]}

Pietila, Mikko ^{[14
]}

机构：

[1] Kuopio Univ Hosp, Ctr Heart, FIN-70211 Kuopio, Finland

[2] Univ Helsinki, Cent Hosp, Helsinki, Finland

[3] Tampere Univ Hosp, Heart Ctr Co, Tampere, Finland

[4] Vaasa Cent Hosp, Vaasa, Finland

[5] Cent Finland Cent Hosp, Jyvaskyla, Finland

[6] Univ Eastern Finland, Ctr Med & Clin Res, Dept Med, FIN-70211 Kuopio, Finland

[7] Hyvinkaa Hosp, Hyvinkaa, Finland

[8] N Karelia Cent Hosp, Joensuu, Finland

[9] Kainuu Cent Hosp, Kajaani, Finland

[10] Kokkola Cent Hosp, Kokkola, Finland

[11] Oulu Univ Hosp, Oulu, Finland

[12] Savonlinna Cent Hosp, Savonlinna, Finland

[13] Seinajoki Cent Hosp, Seinajoki, Finland

[14] Turku Univ Hosp, FIN-20520 Turku, Finland

来源：

ANNALS OF MEDICINE | 2013年 / 45卷 / 01期

基金：

芬兰科学院;

关键词：

Alpha-tropomyosin; Finnish population; founder mutation; hypertrophic cardiomyopathy; myosin-binding protein C; GENOTYPE CLINICALLY USEFUL; PREDICTING-PROGNOSIS; HEAVY-CHAIN; SPECTRUM; DISEASE; PREVALENCE; GENETICS;

D O I：

10.3109/07853890.2012.671534

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background. Hypertrophic cardiomyopathy (HCM) is predominantly caused by a large number of various mutations in the genes encoding sarcomeric proteins. However, two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland. Objective. To assess the prevalence of these founder mutations in a large population of patients with HCM from all over Finland. Patients and methods. We screened for two founder mutations (TPM1-D175N and MYBPC3-Q1061X) in 306 unrelated Finnish patients with HCM from the regions covering a population of similar to 4,000,000. Results. The TPM1-D175N mutation was found in 20 patients (6.5%) and the MYBPC3-Q1061X in 35 patients (11.4%). Altogether, the two mutations accounted for 17.9% of the HCM cases. In addition, 61 and 59 relatives of the probands were found to be carriers of TPM1-D175N and MYBPC3-Q1061X, respectively. The mutations showed regional clustering. TPM1-D175N was prevalent in central and western Finland, and MYBPC3-Q1061X in central and eastern Finland. Conclusion. The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.

引用

页码：85 / 90

页数：6

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