What does this research mean for the field?

A novel de novo missense variant in the RAP1B gene is associated with congenital renal cystic dysplasia (CRCD). Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To describe prenatal ultrasound signs of congenital renal anomalies and investigate the genetic basis associated with these findings.

March 16, 2026Open Access

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Puntos clave

To describe prenatal ultrasound signs of congenital renal anomalies and investigate the genetic basis associated with these findings.
Utilized prenatal ultrasound to identify signs of congenital renal cystic dysplasia.
Conducted molecular investigations for genetic variants in the RAP1B gene.
Analyzed predictive tools to assess pathogenicity of the identified variant.
Identified a novel missense variant (c.179G>T, p.(Gly60Val)) in the RAP1B gene.
Predictive tools indicate this variant may contribute to the observed renal anomalies.
No previous literature documented this specific genetic change.

Resumen

ABSTRACT A detailed description of prenatal ultrasound signs of congenital renal cystic dysplasia (CRCD) is reported. Molecular investigations identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene. This is a missense variant not described in the literature. Predictive tools suggest a pathogenic role for this mutation and a likely association with the clinical phenotype.

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