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Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel COL4A1 Mutation
- Source :
- Case Reports in Ophthalmology. 10:424-430
- Publication Year :
- 2019
- Publisher :
- S. Karger AG, 2019.
-
Abstract
- We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1, located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.
- Subjects :
- Optic nerve hypoplasia
Pathology
medicine.medical_specialty
business.industry
Corpus Callosum Agenesis
010102 general mathematics
Lissencephaly
medicine.disease
01 natural sciences
Porencephaly
Hypoplasia
03 medical and health sciences
Ophthalmology
Dysgenesis
0302 clinical medicine
030221 ophthalmology & optometry
medicine
Optic nerve
0101 mathematics
business
Agenesis of the corpus callosum
Subjects
Details
- ISSN :
- 16632699
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Case Reports in Ophthalmology
- Accession number :
- edsair.doi...........38d8d9cbd0b3d5a38615a1fff84c77f9
- Full Text :
- https://doi.org/10.1159/000505017