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Article

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly

9 Mar 2021

Abstract excerpt

Objective We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the COLGALT1 gene, with a more severe phenotype than the 2 children reported earlier. Methods Analysis of whole exome sequencing (WES) data of the child and parents was performed. We validated the missplicing of the homozygous variant using reverse transcription PCR...

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PMID: 33709034
DOI: 10.1212/nxg.0000000000000564

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