Genetic and ultrasound assessment in recurrent fetal malformations: a case report on TUBA1A gene variation

Résumé fourni par la source

To elucidate the etiology of recurrent fetal brain developmental malformations accompanied by other structural ultrasound anomalies in a Chinese non-consanguineous couple, we performed a comprehensive evaluation of prenatal ultrasound phenotypes across their two consecutive pregnancies. Copy number variation sequencing and exome sequencing were applied to the amniotic fluid sample obtained from the affected pregnancy. One copy number variation and four candidate missense variants in three genes identified in the initial analysis were reassessed and reclassified according to current clinical and genetic evidence. Our results demonstrated that a maternal mosaic c.7G>A(p.Glu3Lys) variant in the tubulin alpha 1a (TUBA1A ) gene was the underlying cause of the couple’s recurrent adverse pregnancy outcomes. These findings enrich the database of pathogenic TUBA1A variants, expand the spectrum of associated prenatal ultrasound phenotypes, and provide valuable insights into the underlying pathogenic mechanisms.

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