Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

被引：7

作者：

Jaouadi, Hager ^{[1
,2
]}

Chabrak, Sonia ^{[3
]}

Lahbib, Saida ^{[1
]}

Abdelhak, Sonia ^{[1
]}

Zaffran, Stephane ^{[2
]}

机构：

[1] Inst Pasteur Tunis, Biomed Genom & Oncogenet Lab LR16IPT05, Tunis, Tunisia

[2] Aix Marseille Univ, Marseille Med Genet, INSERM, Marseille, France

[3] Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia

来源：

CLINICAL CASE REPORTS | 2022年 / 10卷 / 02期

关键词：

AGRN gene; CPVT; known gene-novel gene association; RPL3L gene; whole exome sequencing; EXON; 3; DELETION;

D O I：

10.1002/ccr3.5339

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life-threatening arrhythmias, a normal resting electrocardiogram and the absence of overt structural heart abnormalities. Mutations in RyR2 gene account for the large part of CPVT cases. Less frequently, mutations in CASQ2 gene have been linked to the recessive form of the disease. Overall, approximately 35% of CPVT patients remain without a genetic etiology implying that other genes might be found causative of the disease. Here, we present a 6-year-old boy born to first-degree related parents, with a typical phenotype of CPVT and a family history of sudden cardiac death of his brother at 7 years. A trio-based whole exome sequencing was performed, and we identified a homozygous variant in AGRN gene and a heterozygous variant in RPL3L gene. We hypothesized that the presence of the homozygous variant in AGRN accounts for the CPVT phenotype in this family and the heterozygous variant in RPL3L gene may act as a modifier gene. Further studies are needed to determine the role of these genes in CPVT.

引用

页数：6