塞尔维亚家系 Sveinsson 型脉络膜视网膜萎缩的新型 TEAD1 基因突变。

Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy.

机构信息

Department of Human Genetics, Zvezdara University Medical Center, University of Belgrade, Dimitrija Tucovića 161, 11000, Belgrade, Serbia.

Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Dr Subotića Starijeg 6, 11000, Belgrade, Serbia.

出版信息

Exp Eye Res. 2021 Jun;207:108575. doi: 10.1016/j.exer.2021.108575. Epub 2021 Apr 14.

DOI:10.1016/j.exer.2021.108575

PMID:33864784

Abstract

Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.1261T>A, p.Tyr421Asn in TEAD1, detected in a Serbian family from Bosnia diagnosed with SCRA. The newly discovered change occurred at the same position as the "Icelandic mutation" (c.1261T>C, p.Tyr421His). According to our findings, this position in the exon 13 of the TEAD1 gene, at base pair 94, should be considered as a mutation hotspot and a starting point for future genetic analyses of patients with SCRA diagnosis.

摘要

以前曾提到过 Sveinsson 的脉络膜视网膜萎缩（SCRA）或螺旋状视盘周围脉络膜视网膜变性（HPCD），这是一种罕见的眼部疾病，具有常染色体显性遗传模式。绝大多数报道的病例均来自冰岛，但 SCRA 的特征性临床图像也在非冰岛血统的患者中进行了描述。在这里，我们报告了一种在患有 SCRA 的来自波斯尼亚的塞尔维亚家族中发现的新的致病变异 c.1261T>A，p.Tyr421Asn 在 TEAD1 中。新发现的变化发生在与“冰岛突变”（c.1261T>C，p.Tyr421His）相同的位置。根据我们的发现，TEAD1 基因外显子 13 中的这一位点（碱基对 94）应被视为突变热点，并应作为未来 SCRA 患者遗传分析的起点。