{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T22:49:37Z","timestamp":1770331777022,"version":"3.49.0"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Congenital renal anomalies are one of the leading causes of perinatal and neonatal mortality in children. Here, we present a case of a 17-week-6-day pregnant patient, in whom prenatal ultrasound confirmed the fetal right duplex kidney and left renal agenesis, leading to termination of pregnancy at the patient's request. Whole-exome sequencing were conducted on the fetus and its parents to identify the cause of the fetal ultrasound abnormalities, followed by validation with Sanger sequencing and CMA\/SNP-Array. Bioinformatics analysis assessed the pathogenicity of the mutation site using SIFT, PolyPhen-2, and Mutation Taster. A <jats:italic>de novo<\/jats:italic> heterozygous mutation c.486_487del(p.P163Hfs*17) was identified in exon 2 of the SALL4 gene, with neither parent carrying the mutation. The bioinformatics analysis results all support that the mutation is pathogenic. This frameshift mutation results in a complete alteration of the base sequence from the mutation site, leading to an abnormal amino acid translation and subsequent manifestation of the disease phenotype. Additionally, a maternally inherited 698.8 Kb deletion in the 2q13 region (seq[GRCh37] 2q13(110697011_111395836)x1) was detected in the fetus. Our study identified a novel <jats:italic>de novo<\/jats:italic> frameshift mutation in exon 2 of the SALL4 gene. This mutation is associated with unilateral renal agenesis and duplication of renal pelvis, providing valuable insights for genetic counseling and prenatal diagnosis of SALL4-related disorders.<\/jats:p>","DOI":"10.3389\/fped.2025.1535435","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T05:30:30Z","timestamp":1753853430000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case 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