Prenatal clinical manifestations in individuals with COL4A1/2 variants

Heterozygous pathogenic COL4A1/2 variants cause early-onset cerebrovascular diseases, including porencephaly and schizencephaly. Although most of them are developed during prenatal periods, little had been known about their prenatal clinical features. We identified 56 individuals with pathogenic COL4A1/2 variants, and obtained prenatal clinical information in 47 individuals. Only about 30% of them exhibited prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. In contrast, non-specific findings such as ventriculomegaly (shown in photos) and fetal growth restriction were the major prenatal initial signs of COL4A1/2-related disorders. Our work extends the prenatal phenotypic varieties of COL4A1/2-related disorders, and it would be valuable for the consideration of the prenatal genetic diagnosis of COL4A1/2-related disorders. (By Dr. Satoko Miyatake, https://jmg.bmj.com/content/early/2020/07/30/jmedgenet-2020-106896 )

Deformed ventriculomegaly are prenatally seen in two patients at 34 (left) and 30 (right) weeks of gestation.

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