Identification of a New Genetic Mutation Associated With Peters Anomaly
Autor: | Saskia Biskup, Hanna Faber, Anja Holz, Oliver Puk, Bogomil Voykov |
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Rok vydání: | 2020 |
Předmět: |
Collagen Type IV
medicine.disease_cause Slit Lamp Microscopy 03 medical and health sciences Basal (phylogenetics) Dysgenesis symbols.namesake 0302 clinical medicine Corneal Opacity Anterior Eye Segment Exome Sequencing medicine Humans Anterior segment mesenchymal dysgenesis Eye Abnormalities Gene Stroke Exome sequencing Genetics Sanger sequencing Mutation business.industry Infant Newborn medicine.disease Ophthalmology Phenotype 030221 ophthalmology & optometry symbols Female business 030217 neurology & neurosurgery |
Zdroj: | Cornea. 40(3) |
ISSN: | 1536-4798 |
Popis: | Purpose To report a new genetic mutation in the COL4A1 gene, which was identified in a baby girl with Peters anomaly (PA), a rare anterior segment mesenchymal dysgenesis, which is characterized by unilateral or bilateral corneal opacities often accompanied by glaucoma, cataract, and systemic malformations and associated with various genetic mutations. Methods Ophthalmologic examination of one baby girl and whole exome sequencing and Sanger sequencing of blood samples of the child and her biological parents were performed. Results Ophthalmologic examination led to the diagnosis of PA type I in the baby girl. Whole exome sequencing and Sanger sequencing identified the de novo mutation c.181_189delinsAGGTTTCCG; p.Gly61Arg in the COL4A1 gene in the child, whereas no other putatively causative variants in established genes associated with anterior segment dysgenesis were present. Conclusions PA might be associated with the mutation c.181_189delinsAGGTTTCCG; p.Gly61Arg in the COL4A1 gene. The COL4A1 gene encodes for collagen IVα1, an essential component of basal membranes, and mutations are associated with an increased risk for renal and cerebrovascular disorders and stroke. This should be considered when advising and monitoring patients. |
Databáze: | OpenAIRE |
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