UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder

Paisan-Ruiz, C; Scopes, G; Lee, P; Houlden, H; (2009) Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder. AM J MED GENET B , 150B (7) 993 - 997. 10.1002/ajmg.b.30929.

Full text not available from this repository.

Abstract

The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homozygosity tracks can be easily identified by using these high throughput SNPs arrays, allowing the rapid mapping of autozygous segments that may be associated with the disease. According to this, we performed homozygosity mapping using genome wide SNP arrays in a North Indian family with an autosomal recessive disorder of ataxia, epilepsy, cognitive decline and visual problems. In this kindred, a large number of homozygous regions were identified. In silico analysis was also carried out. The COL18A1 gene found in one of the homozygous tracks has genetic defects previously reported with a similar phenotype as our family. Hence, it was the most likely candidate gene and at large the first to be analyzed. A homozygous COL18A1 two base pair deletio segregating with the disease was identified; expanding the spectrum of disease seen in COL18A1 and proving that the genetic lesion underlying recessive disorders can rapidly identify by employing genotyping arrays along with detailed candidate gene analysis. (C) 2009 Wiley-Liss, Inc.

Type: Article
Title: Homozygosity Mapping Through Whole Genome Analysis Identifies a COL18A1 Mutation in an Indian Family Presenting With an Autosomal Recessive Neurological Disorder
DOI: 10.1002/ajmg.b.30929
Keywords: genome wide genotyping, homozygosity mapping, autosomal recessive, COL181A, epilepsy, KNOBLOCH-SYNDROME, ENDOGENOUS INHIBITOR, MOLECULAR ANALYSIS, COLLAGEN-XVIII, TUMOR-GROWTH, ANGIOGENESIS, ENDOSTATIN, REVEALS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/174709
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item