CMT: Statistical Analysis and Revision of Genetic Diagnostics in a Population, Identification of the Disease Locus in a Family with CMT2, 2010

• Main Author: Nilssen, Øivind
• Format: Dataset
• Language: unknown
• Published: NSD – Norwegian Centre for Research Data 2014
• Subjects: Health; Specific diseases and medical conditions; Charcot; Norway; Tromsø; North Norway
• Online Access: https://dx.doi.org/10.18712/nsd-nsd2100-v1; http://search.nsd.no/study/NSD2100/?version=1

Charcot-Marie-Tooth disease (CMT); Statistical analysis and revision of molecular genetic diagnostics in a patient populations and identification of the disease locus in a large Norwegian family with CMT. CMT is the largest group of inherited polyneuropathies and a large number of genes are associated with the condition. The Department of Medical Genetics at the University Hospital of North-Norway is a part of the National Neuromuscular Centre. Patients with CMT constitute a significant fraction of the patients at the Centre. The diagnostics poses significant challenges due to clinical and genetic heterogeneity. Our research project consists of two parts that both will contribute increased knowledge about CMT and to improved diagnostic services for patients with CMT. Part 1:"Six years experience of molecular genetic testing for Charcot-Marie-Tooth disease at the Department of Medical Genetics in Tromsø". We will revise all CMT requisitions from the period 2004-2009 and evaluate if all patients have been offered adequate and optimal genetic testing. We will document the findings in our patient population, identify factors that predict probability of mutation detection and revise our inclusion criteria and procedures for testing. Part 1 will be of benefit to health services as well as patients and professional users of the laboratory as we expect an increase in conclusive test results, a decrease in false positive results, and a more efficient use of resources for this common neuromuscular disorder. Part 2: "Whole genome linkage analysis in a family with Charcot-Marie-Tooth disease type 2".We have investigated a large Norwegian family with CMT2 in which the mutation remained undetected after genetic testing for the most common causes of CMT. Likely a novel disease locus is involved and, hence, we will proceed with a genome wide linkage analysis and subsequent testing of candidate genes in order to identify the disease causing mutation. Part 2 of the project aim at identifying a new, common, cause of CMT2 in Norway. This will create a new important diagnostic tool and will also expand our understanding of the molecular basis of CMT. For more information about the dataset we kindly refer to the project's Principal Investigator.