双等位基因TMEM126B变异是肾衰竭的一种新原因——肾脏病中线粒体基因检测的意义。

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-09-19 DOI:10.1111/cge.70073

Zachary T Sentell, Anthony C T Cheung, Felicia Russo, Chantal Bernard, Rita Suri, Andrey V Cybulsky, Daniela Buhas, Thomas M Kitzler

引用次数: 0

摘要

一名肾衰竭的成人患有复合杂合TMEM126B变异，导致线粒体复合体I缺乏。这将TMEM126B扩展到线粒体肾病，并支持将线粒体基因纳入肾脏基因检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

An adult with kidney failure had compound-heterozygous TMEM126B variants causing mitochondrial complex I deficiency. This expands TMEM126B to mitochondrial nephropathy and supports including mitochondrial genes in renal genetic testing.

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来源期刊

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