Lecture Klaas Johan Wierenga, MD, MSc, FACMG
- Start date27-05-2011
- Time14.00
- VenueVUmc, Medical Faculty, Room A301
Van den Boechorststraat 7, Amsterdam - TitleA new SNP array evaluation tool to identify autosomal recessive conditions in the offspring of consanguineous unions.
- SpeakerKlaas Johan Wierenga, MD, MSc, FACMG
Associate Professor, Section of Genetics, Department of Pediatrics,
Oklahoma University Health Sciences Center (OUHSC)
Oklahoma City, OK, USA - Contact information
Introduction.
Mendelian disorders for which the genetic basis has been identified is increasing rapidly. These disorders pose a challenge to the clinician to diagnose. In a consanguineous union, the offspring has various runs of homozygosity (ROHs), identifiable by single nucleotide polymorphism (SNP) array technology. We hypothesized that an evaluation tool that identifies all genes associated with OMIM-annotated AR conditions in ROHs of a patient will allow the clinician to compare the patient’s clinical features with the phenotypes of these autosomal recessive (AR) conditions, making a SNP-array the preferred diagnostic approach.
Results. We developed a Perl-CGI online evaluation tool that allows the clinician to identify genes associated with OMIM-annotated AR conditions in ROHs obtained from SNP-array. It incorporates the OMIM database and other genetic databases, providing the user with a summary of genes and pertinent genetic information mapping to the query ROHs. The scale of gene search on the query ROHs can be adjusted. We have tested this tool using cases from our clinical practice. In this manner we diagnosed known AR conditions that had remained unrecognized until employment of this tool.
Conclusions.
SNP-array can be employed to determine the ROHs in the setting of consanguinity. These ROHs can be evaluated for OMIM-annotated AR conditions. We have developed a genomic SNP-array evaluation tool allowing the clinician to evaluate for these AR conditions. We have demonstrated its usefulness in clinical practice, and believe that the SNP-array, together with this Perl-CGI evaluation tool, will change the diagnostic approach in the setting of consanguinity.
