Charron P, Carrier L, Dubourg O, Tesson F, Desnos M, Richard P, Bonne G, Guicheney P, Hainque B, Bouhour J B, Mallet A, Feingold J, Schwartz K, Komajda M
Service de Cardiologie, Hôpital Pitié-Salpêtrière, Paris, France.
Genet Couns. 1997;8(2):107-14.
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant cardiac disease for which the penetrance remains a much-debated issue. Since the recent identification of the genes involved in the disease, the penetrance of FHC has not been reassessed in a large genotyped population. The aim of our study was therefore to evaluate it, according to age and sex, in ten families with previously identified mutations. Among 178 individuals we studied, 90 were genetically affected (9 different mutations in 3 genes). We found that penetrance, assessed by classical echocardiographic and electrocardiographic criteria, was (1) incomplete: 69%; (2) age-related: 55% between 10 and 29 years old, 75% between 30 and 49 y. and 95% over 50 y.; (3) greater in males than in females: 77% vs 58%, age-adjusted odds ratio: 3.98, CI 95%: 1.34 to 11,48; (4) similar for the genes analyzed. The consequences of these results for genetic counseling and linkage analyses are discussed.
家族性肥厚型心肌病（FHC）是一种常染色体显性遗传性心脏疾病，其外显率仍是一个备受争议的问题。自从最近确定了与该疾病相关的基因以来，尚未在大规模基因分型人群中重新评估FHC的外显率。因此，我们研究的目的是在十个先前已确定突变的家族中，根据年龄和性别对其进行评估。在我们研究的178名个体中，90名受到基因影响（3个基因中有9种不同突变）。我们发现，通过经典超声心动图和心电图标准评估的外显率为：（1）不完全：69%；（2）与年龄相关：10至29岁之间为55%，30至49岁之间为75%，50岁以上为95%；（3）男性高于女性：77%对58%，年龄调整后的优势比：3.98，95%置信区间：1.34至11.48；（4）所分析的基因相似。讨论了这些结果对遗传咨询和连锁分析的影响。
