Molecular Autopsy of Desmosomal Protein Plakophilin-2 in Sudden Unexplained Nocturnal Death Syndrome
Molecular Autopsy of Desmosomal Protein Plakophilin-2 in Sudden Unexplained Nocturnal Death Syndrome
复制标题
不明原因夜间死亡综合征中桥粒蛋白 Plakophilin-2 的分子尸检
DOI：
10.1111/1556-4029.13027
复制
发表时间：
2016
影响因子：
1.6
通讯作者：
ing
中科院分区：
文献类型：
--
作者：
Huang Lei;Tang Shuangbo;Peng Longyun;Chen Yili;Cheng Ji;ing
Plakophilin-2 (PKP2) 变体可能产生 Brugada 综合征 (BrS) 表型，这似乎很可能与某些不明原因夜间死亡综合征 (SUNDS) 是相同的等位基因疾病。采用PCR和直接Sanger测序方法对119名SUNDS受害者的PKP2基因的所有编码区进行了基因筛查。鉴定出三种新突变（p.Ala159Thr、p.Val200Val 和 p.Gly265Glu）、一种新的罕见多态性（p.Thr723Thr）和八种报道的多态性。在一例不存在心肌病特征的 SUNDS 病例中发现了复合突变（p.Ala159Thr 和 p.Gly265Glu）和罕见的多态性（p.Thr723Thr）。在 SUNDS PKP2 遗传表型的首次调查中发现的复合突变被认为是该 SUNDS 病例的合理遗传原因。 SUNDS 中 PKP2 突变的罕见发生率 (1%) 支持了之前的观点，即 SUNDS 最有可能是像 BrS 一样的等位基因疾病。
Plakophilin‐2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions ofPKP2gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p.Gly265Glu) and a rare polymorphism (p.Thr723Thr) were found in one SUNDS case with absence of the cardiomyopathic features. The detected compound mutation identified in this first investigation ofPKP2 genetic phenotype in SUNDS is regarded as the plausible genetic cause of this SUNDS case. The rare incidence ofPKP2mutation in SUNDS (1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as BrS.