P318: COL4A1-related syndrome case report: To anticipate or to not anticipate

Genetics in Medicine Open 2026 Open access

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Authors: Alicia Smith, Georgianne Younger, Kyle Dillahunt, Moon Ley Tung
DOI: 10.1016/j.gimo.2026.103812
Cited by: 0

Abstract

COL4A1-related syndromes result from a variant in the COL4A1 (OMIM 120130) gene that codes for the alpha-1 subunit of type IV collagen, an integral component of the basement membranes of most cell types in the human body. Due to type IV collagen’s wide distribution throughout the body, COL4A1-related syndromes present with a variety of phenotypes. Some of the possible manifestations of these syndromes are infantile hemiplegia, strokes, transient visual loss, hematuria, renal cysts, and muscle cramps.

Fields of Study & Subjects

Cerebrovascular and genetic disorders Connective tissue disorders research Renal Diseases and Glomerulopathies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103812–103812
Publication date
1 January 2026
Language
EN