ArticleJournal of medical genetics2026
Biallelic pathogenic variants in
Yueheng Gan, Xueying Yang, Han Chan, Shuyan Yang, Haiping Yang, Qiu Li
Abstract read
In one paragraphArticle in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
6 authors.
Yueheng GanDepartment of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, China.ORCID http://orcid.org/0009-0008-3570-2463 Xueying YangDepartment of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, China.
Han ChanDepartment of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, China.
Shuyan YangBeijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China oyhp0708@163.com shuyanyang79@126.com liqiu809@hospital.cqmu.edu.cn.
Haiping YangDepartment of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, China oyhp0708@163.com shuyanyang79@126.com liqiu809@hospital.cqmu.edu.cn.
Qiu LiDepartment of Nephrology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Chongqing, China oyhp0708@163.com shuyanyang79@126.com liqiu809@hospital.cqmu.edu.cn.ORCID http://orcid.org/0000-0002-2481-7168 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
backgroundSteroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes of SRNS have been identified, a significant proportion of affected patients still lack a clear genetic diagnosis, indicating that additional causative genes remain to be discovered.
methodsThrough whole-exome sequencing of a paediatric SRNS cohort, we identified three probands carrying biallelic
resultsAll three probands presented with isolated SRNS without skeletal developmental abnormalities, and renal tissues showed significantly reduced Filamin B protein expression. In vitro, p.L117P and p.M1803L variants led to markedly reduced protein expression, while p.R470L and p.K2586R induced perinuclear aggregation of Filamin B accompanied by F-actin rearrangement.
conclusionWe report for the first time that biallelic
Indexed as
CytoskeletonFilaminsGenetic Predisposition to DiseaseNephrotic SyndromePodocytesAllelesAnimalsChildChild, PreschoolExome SequencingFemaleHEK293 CellsHumansMaleMembrane ProteinsMicrofilament ProteinsFilaminsMembrane ProteinsMicrofilament ProteinsnephrinSYNPO protein, humanDiagnosisGenetic TestingGenetic VariationNephrologyPediatrics
Identifiers
PMID42209213
PMCPMC13539846
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