Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis

被引：1

作者：

Wang, Chenyu ^{[1
,2
]}

Du, Ran ^{[2
]}

Jin, Jieyuan ^{[2
]}

Dong, Yi ^{[2
]}

Liu, Jishi ^{[1
]}

Fan, Liangling ^{[2
,3
]}

Xiang, Rong ^{[2
,3
]}

机构：

[1] Cent South Univ, Dept Nephrol, Xiangya Hosp 3, Changsha 410013, Peoples R China

[2] Cent South Univ, Sch Life Sci, Dept Cell Biol, Changsha 410013, Peoples R China

[3] Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Human Dis, Changsha 410013, Peoples R China

来源：

AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH | 2020年 / 12卷 / 08期

基金：

中国国家自然科学基金;

关键词：

ADCY10; nephrolithiasis; kidney stone; molecular diagnosis;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Nephrolithiasis is a prevalent condition with high morbidity, and the incidence and prevalence of nephrolithiasis have been increasing worldwide. Although dozens of monogenic reason of nephrolithiasis have been identified, the fraction of the disease caused by single genes has not been determined. In this study, employing total exon sequencing technology, we investigated two patients in south-central China with primary nephrolithiasis and identified a novel ADCY10 mutation c.2186G > A (p.G729E) and a known ADCY10 mutation c.2182G > A (p.E728K). The results of our study suggest that ADCY10 plays an important role in nephrolithiasis.

引用

页码：4576 / 4581

页数：6

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