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Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.

Nephron - 1 Jan 2023

Zhang Xinjie, Zhi Xiufang, Wang Xin, Dong Yan, Shu Jianbo, Wang Wenhong, Cai Chunquan

Abstract excerpt

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome sequencing (WES) was performed to identify the candidate variant with a negative result initially. After complete collection of clinical information, reanalysis...

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PMID: 36878198
DOI: 10.1159/000529472

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