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April 2021; 7 (2) ArticleOpen Access

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly

A Case Report

Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
First published March 9, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000564
Mariel W.A. Teunissen
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: mwavanduijn@gmail.com
Erik-Jan Kamsteeg
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: erik-jan.kamsteeg@radboudumc.nl
Suzanne C.E.H. Sallevelt
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: suzanne.sallevelt@mumc.nl
Maartje Pennings
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: maartje.pennings@radboudumc.nl
Noel J.C. Bauer
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: n.bauer@mumc.nl
R. Jeroen Vermeulen
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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  • For correspondence: jeroen.vermeulen@mumc.nl
Joost Nicolai
From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.
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Citation
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly
A Case Report
Mariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Neurol Genet Apr 2021, 7 (2) e564; DOI: 10.1212/NXG.0000000000000564

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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 and Sanger sequencing of the mRNA demonstrated that 2 cryptic splice sites are activated, causing a frameshift in the major transcript and in-frame deletion in a minor transcript.

Conclusions We report a third patient with biallelic pathogenic variants in COLGALT1, confirming the role of this gene in autosomal recessive BSVD3.

Glossary

BSVD=
brain small vessel disease;
ColGalT1=
collagen beta galactosyltransferase 1;
EBV=
Epstein-Barr virus;
NMD=
nonsense-mediated decay;
WES=
whole exome sequencing

Footnotes

  • Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

  • The Article Processing Charge was funded by the authors.

  • Received May 12, 2020.
  • Accepted in final form January 14, 2021.
  • Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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