Research Paper: 

2017 Durrani-Kolarik

Date Published : 

04/24/2016

Summary

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis

Excerpt

BACKGROUND: COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities. PATIENT DESCRIPTION: We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1. CONCLUSIONS: Identification of this mutation in affected individuals has implications for perinatal management and genetic counseling.

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis
Download

Gould Syndrome Foundation

We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes.
Gould Syndrome Foundation badge
© Copyright 2021by Gould Syndrome Foundation - Website by Selser Media