期刊
CLINICAL GENETICS
卷 102, 期 1, 页码 61-65出版社
WILEY
DOI: 10.1111/cge.14128
关键词
nephronectin; NPNT; renal agenesis
资金
- Center for Genomic Medicine
Congenital anomalies of the kidney and urinary tract (CAKUT) are a range of abnormalities affecting the development of the kidneys and urinary tract. This study confirms the role of Nephronectin in renal agenesis in humans and shows that even complete loss of function can result in the formation of a single kidney.
Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT. Loss of either nephronectin (NPNT) or its receptor ITGA8 leads to failure of metanephric kidney development with resulting renal agenesis in murine models. Very recently, a single family with renal agenesis and a homozygous truncating variant in NPNT was reported. We report two families in whom genome-wide linkage analysis showed an autozygous locus linked to BRA (at least one member has unilateral renal agenesis) at 4q24, with an LOD score of similar to 3. Exome sequencing detected a nonsense variant in NPNT in both families within the linkage interval. The pathogenicity of this variant was supported by reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Our report confirms the candidacy of NPNT in renal agenesis in humans and shows that even complete loss of function can be compatible with the formation of a single kidney.
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