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Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant.
Frontiers in Genetics · · Case Reports · Open access
Ge, Li + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Prenatal ultrasound in a 34-year-old pregnancy at 25 weeks identified congenital knee dislocation with knee hyperextension, and exome sequencing found a likely pathogenic BICD2 variant c.1613A>G (p.Tyr538Cys).
- Why it matters: Congenital knee dislocation is rare and its cause is unclear, so linking fetal ultrasound findings to genetic variants can improve diagnosis and planning for affected families.
- What they did: The team performed prenatal ultrasonography and then exome sequencing on the fetus, using ACMG criteria (PS2+PM2) to classify the heterozygous BICD2 mutation.
- The result: Autopsy after termination confirmed the prenatal diagnosis, expanding the prenatal ultrasound phenotype spectrum for BICD2-related disorders and supporting exome sequencing when fetal anomalies are detected.
The findingWhy it mattersWhat they didThe result
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