一例由心肌肌钙蛋白I（TNNI3）新突变引起的隐性限制型心肌病病例报告。
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
作者信息
Pantou Malena P, Gourzi Polyxeni, Gkouziouta Aggeliki, Armenis Iakovos, Kaklamanis Loukas, Zygouri Christianna, Constantoulakis Pantelis, Adamopoulos Stamatis, Degiannis Dimitrios
机构信息
Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece.
Heart Failure, MCS and Transplant Unit, Onassis Cardiac Surgery Center, Athens, Greece.
出版信息
BMC Med Genet. 2019 Apr 5;20(1):61. doi: 10.1186/s12881-019-0793-z.
BACKGROUND
Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.
CASE PRESENTATION
Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c.586G > C, p.(Asp196His). Her parents were third-degree cousins originating from a small village and although they were found heterozygous for the same variant they displayed no symptoms of the disease. Her older sister who was also found heterozygous was asymptomatic. Her twin sister and her brother who were homozygous for the same variant displayed a restrictive and a hypertrophic phenotype, respectively. Their children are all carriers of the mutation and remain asymptomatic until the age of 21.
CONCLUSION
These observations point to a recessive mode of inheritance reported for the first time for this combination of gene/disease.
背景
限制性心肌病是一种罕见的心脏疾病，包括TNNT2、MYPN、FLNC和TNNI3在内的多个基因已与其家族形式相关联。
病例报告
在此，我们描述了一名女性先证者，其具有严重的限制性表型，导致41岁时进行了心脏移植，发现该患者对于新的TNNI3突变：NM_000363.4:c.586G＞C，p.(Asp196His)呈纯合状态。她的父母是来自一个小村庄的三级亲属，尽管发现他们对于相同变异呈杂合状态，但未表现出该疾病的症状。她同样被发现为杂合子的姐姐无症状。她的同卵双胞胎姐姐和哥哥对于相同变异分别呈纯合状态，表现出限制性和肥厚性表型。他们的孩子均为该突变的携带者，直到21岁都没有症状。
结论
这些观察结果表明这种基因/疾病组合首次报道的隐性遗传模式。
Zotero 插件