A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum

Karina Krajden Haratz, Gustavo Malinger*, Uri Erlik, Rayna Goldstein, Mordechai Shohat, Roee Birnbaum

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs. Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype including neurodevelopmental disorder with variable motor and language impairment, but also mild phenotypes have been reported. MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients. This is the first prenatal report of a DHX30-associated neurodevelopmental disorder in which the fetus presents with isolated callosal dysgenesis, stressing the importance of exome sequencing in fetuses with this condition, as far as it is phenotypic presentation of numerous syndromes with different outcomes.

Original languageEnglish
Pages (from-to)357-359
Number of pages3
JournalPrenatal Diagnosis
Issue number3
StatePublished - Mar 2024


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