TSC gene in a family with tuberous sclerosis complicated with giant bilateral renal angiomyolipoma
10.3760/cma.j.issn.1671-8925.2019.01.014
- VernacularTitle:结节性硬化症合并双肾巨大血管平滑肌脂肪瘤一家系TSC基因突变分析
- Author:
Ruixiao ZHANG
1
;
Jianhong WANG
;
Qing WANG
;
Yue HAN
;
Yanhua LANG
;
Xuejun LIU
;
Leping SHAO
Author Information
1. 青岛大学附属青岛市市立医院肾内科 266071
- Keywords:
Tuberous sclerosis;
Renal angiomyolipoma;
TSC gene
- From:
Chinese Journal of Neuromedicine
2019;18(1):76-79
- CountryChina
- Language:Chinese
-
Abstract:
Objective To describe the clinical characteristics of a family with tuberous sclerosis (TSC) complicated with giant bilateral renal angiomyolipoma,and to analyze the causal genetic mutations.Methods All coding regions of TSC1 gene and TSC2 gene were analyzed by next generation sequencing.The potential effect on abnormal splicing was confirmed by minigene assay based on the pSPL3 exon capture vector and was validated in vivo with the patient's RNA.Results The clinical manifestations of the proband were typical.Bilateral large renal angiomyolipomas were her principal clinical features.Besides,facial angiofibroma,periungual fibroma,lung lymphangioleiomyomatosis and subependymal nodule were also noted.A novel heterozygous variant of TSC2 gene (c.3610G＞A) was identified.On the protein level,this variant was presumed to be missense mutation (p.Glyl204Arg);however,the splicing assay revealed that this mutation also led to aberrant splicing with the whole exon 29 skipping on the transcripts level.Conclusion A novel mutation c.3610G＞A,contributing to aberrant splicing and missense alteration (p.Glyl204Arg),is identified in association with TSC.
