Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Zhao Xuechao, Zheng Yuting, Liu Ning, Wang Conghui, Zhao Ganye, Zhang Junjun, Kong Xiangdong
Аннотация
OBJECTIVE: To explore the genetic basis for a patient presenting with renal insufficiency.
METHODS: The patient was subjected to whole exome sequencing, and the candidate variant was verified by Sanger sequencing. Transcriptional activity of the PAX2 gene was analyzed by using a PRS4-EGFP reporter plasmid.
RESULTS: Genetic testing revealed that the patient has carried a novel de novo heterozygous variant c.418C>T (p.Arg140Trp) of the PAX2 gene. The influence of c.389C>G (p.Pro130Arg), c.478G>A (p.Ala160Thr), c.418C>G (p. Arg140Gly) and c.418C>T (p.Arg140Trp) variants on the transcriptional activity was also evaluated. Functional study has illustrated that the PAX2-P130R, PAX2-R140G and PAX2-R140W variants all had a significant inhibitory effect on the transcriptional activity, but not the PAX2-A160T variant.
CONCLUSION: The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene.
METHODS: The patient was subjected to whole exome sequencing, and the candidate variant was verified by Sanger sequencing. Transcriptional activity of the PAX2 gene was analyzed by using a PRS4-EGFP reporter plasmid.
RESULTS: Genetic testing revealed that the patient has carried a novel de novo heterozygous variant c.418C>T (p.Arg140Trp) of the PAX2 gene. The influence of c.389C>G (p.Pro130Arg), c.478G>A (p.Ala160Thr), c.418C>G (p. Arg140Gly) and c.418C>T (p.Arg140Trp) variants on the transcriptional activity was also evaluated. Functional study has illustrated that the PAX2-P130R, PAX2-R140G and PAX2-R140W variants all had a significant inhibitory effect on the transcriptional activity, but not the PAX2-A160T variant.
CONCLUSION: The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene.