由纯合子TNS2截断变异引起的成人肾病综合征:扩大突变谱。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Ali Babazade, Taha Enes Cetin, Ozant Helvacı, Ozden Seckin, Gulsum Kayhan
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引用次数: 0

摘要

TNS2相关性肾病综合征(TNS2- ns)是一种罕见的常染色体隐性遗传肾病综合征,由TNS2基因的致病变异引起。仅有5例病例被记录在案,均涉及双等位基因错义变异,症状出现在儿童早期。我们描述了一位患有肾病综合征的34岁男性患者,通过外显子组测序发现其TNS2具有纯合子停止突变。这是首例报道的人类TNS2截断型变异和成人发病病例,不同于早期发病和错义突变的病例。虽然对小鼠的研究表明Tns2对肾脏健康至关重要,但缺乏类似的人体数据。我们的研究结果表明,TNS2的零突变也可能导致肾病综合征,并可能导致疾病在以后的生活中表现出来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Adult-Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational Spectrum.

TNS2-related Nephrotic Syndrome (TNS2-NS) is a rare form of nephrotic syndrome inherited in an autosomal recessive manner, caused by pathogenic variants in the TNS2 gene. Only five cases have been documented, all involving biallelic missense variants with symptoms appearing in early childhood. We describe a 34-year-old man with nephrotic syndrome who was found to have a homozygous stop-gain mutation in TNS2 via exome sequencing. This is the first reported human case with a truncating TNS2 variant and adult-onset disease, differing from earlier cases with early onset and missense mutations. While studies in mice show that Tns2 is vital for kidney health, similar human data are lacking. Our results indicate that null mutations in TNS2 could also lead to nephrotic syndrome and may result in the disease manifesting later in life.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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