A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
复制标题
阿拉伯家庭中的 NRIP1 截短变体，患有先天性肾脏和泌尿道异常。
DOI：
10.1002/ajmg.a.62502
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Hildebrandt,Fri
中科院分区：
文献类型：
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作者：
Zheng,Bixia;Wang,Chunyan;Seltzsam,Steve;Schneider,Sophia;Schierbaum,Luca;Wu,Wilfred;Dai,Rufeng;Connaughton,DervlaM;Nakayama,Makiko;Mann,Nina;Bauer,StuartB;Awad,HazemS;Eid,LoaiA;Tasic,Velibor;Shril,Shirlee;Hildebrandt,Fri
Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the most common cause of early‐onset chronic kidney disease. In a previous study, we identified a heterozygous truncating variant in nuclear receptor‐interacting protein 1 (NRIP1) as CAKUT causing via dysregulation of retinoic acid signaling. This large family remains the only family withNRIP1variant reported so far. Here, we describe one additional CAKUT family with a truncating variant inNRIP1. By whole‐exome sequencing, we identified one heterozygous frameshift variant (p.Asn676Lysfs*27) in an isolated CAKUT patient with bilateral hydroureteronephrosis and right grade V vesicoureteral reflux (VUR) and in the affected father with left renal hypoplasia. The variant is present twice in a heterozygous state in the gnomAD database of 125,000 control individuals. We report the second CAKUT family with a truncating variant inNRIP1, confirming that loss‐of‐function mutations inNRIP1are a novel monogenic cause of human autosomal dominant CAKUT.
