Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.

ABSTRACT:

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 and Sanger sequencing of the mRNA in a lymphocyte culture.

Results

The patient presented antenatally with porencephaly on ultrasound and MRI. Postnatally, he showed a severe developmental delay, refractory epilepsy, spastic quadriplegia, and a progressive hydrocephalus. WES revealed a homozygous canonical splice site variant NM_024656.3:c.625-2A>C. PCR a

SUBMITTER: Teunissen MWA 

PROVIDER: S-EPMC7943220 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature