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Title: Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
Austin Authors: Corbett, Mark A;Turner, Samantha J;Gardner, Alison;Silver, Jeremy;Stankovich, Jim;Leventer, Richard J;Derry, Christopher P;Carroll, Renée;Ha, Thuong;Scheffer, Ingrid E ;Bahlo, Melanie;Jackson, Graeme D ;Mackey, David A;Berkovic, Samuel F ;Gecz, Jozef
Affiliation: Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Australia, Perth, Western Australia, Australia
Department of Sleep Medicine, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, United Kingdom
Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia
School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australia
Neuroscience of Speech Group, Clinical Sciences Theme, Murdoch Children's Research Institute, Parkville 3052, Australia
Department of Neurology, Murdoch Children's Research Institute, Parkville 3052, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne 3084, Australia
The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia
School of Earth Sciences, The University of Melbourne, Parkville 3010, Australia
South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia
Issue Date: Aug-2017
Date: 2017
Publication information: European journal of medical genetics 2017; 60(8): 437-443
Abstract: Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Whole exome sequencing of two affected sisters followed by filtering for rare and potentially disease causing variants in all genes identified compound heterozygous variants in NM_030582.3 (COL18A1): c.3690G > A: p.(Trp1230*) and NM_030582.3 (COL18A1): c.4063_4064delCT: p.(Leu1355Valfs*72). The two variants co-segregated with the affected individuals in the family. Identification of COL18A1 mutations in individuals with a Lennox-Gastaut phenotype and anterior polymicrogyria but lacking the classical occipital encephalocele expands the COL18A1 clinical spectrum.
DOI: 10.1016/j.ejmg.2017.06.002
ORCID: 0000-0002-2311-2174
Journal: European journal of medical genetics
PubMed URL: 28602933
Type: Journal Article
Subjects: COL18A1
Exome sequencing
Knobloch syndrome
Appears in Collections:Journal articles

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