Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/18733
Title: A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Austin Authors: Ha, Thuong T;Sadleir, Lynette G;Mandelstam, Simone A;Paterson, Sarah J;Scheffer, Ingrid E ;Gecz, Jozef;Corbett, Mark A
Affiliation: School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia
Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia
Department of Radiology, University of Melbourne, Royal Children's Hospital Parkville, Melbourne, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
School of Medicine, University of Adelaide, Adelaide, South Australia, Australia
Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia
Issue Date: Apr-2016
metadata.dc.date: 2015-12-28
Publication information: American journal of medical genetics. Part A 2016; 170A(4): 1059-63
Abstract: Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. Families with mutations in COL4A2 are now emerging with a similar phenotype. We describe a family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities, which was negative for mutations in COL4A1. Using whole exome sequencing of three affected individuals from three generations, we identified a rare variant in COL4A2. This COL4A2 (c.2399G>A, p.G800E, CCDS41907.1) variant was predicted to be damaging by multiple bioinformatics tools and affects an invariable glycine residue that is essential for the formation of collagen IV heterotrimers. The cataracts identified in this family expand the phenotypic spectrum associated with mutations in COL4A2 and highlight the increasing overlap with phenotypes associated with COL4A1 mutations.
URI: http://ahro.austin.org.au/austinjspui/handle/1/18733
DOI: 10.1002/ajmg.a.37527
ORCID: 0000-0002-2311-2174
PubMed URL: 26708157
Type: Journal Article
Subjects: COL4A1
COL4A2
autosomal dominant
cataracts
epilepsy
porencephaly
Appears in Collections:Journal articles

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