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Article

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Clinical genetics - 1 Feb 2026

Muhammad Anees, Nosrati Mohammad Sadegh Shams, Dostmohammadi Alireza, Khorasanian Reihaneh, Severino Mariasavina, Doustmohammadi Morteza, Madia Francesca, Srivastava Siddharth, Quinlan Aisling, Paladini Dario, Zara Federico, Scala Marcello

Abstract excerpt

Deleterious variants in COL4A2, encoding type IV collagen's alpha-2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We reported two severe cases: Case #1, an aborted fetus with cerebral calcifications, hemorrhages, periventricular leukomalacia, and cerebellar disruption; and Patient #2, a 2-year-old...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41499643
DOI: 10.1111/cge.70043
PMCID: PMC12779229

Genes

COL4A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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