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Project

Genomics structural variations analysis in family with Gollop-Wolfgang Syndrome

Gollop-Wolfgang syndrome (GWS) is a rare congenital limb anomaly characterized by tibial aplasia, ipsilateral bifurcation of the thighbone and an ectrodactyly. My research focuses on the identification and functional analysis of DNA mutations linked to this syndrome. A three-generation family harbouring four affected family members was recently identified as a collaborative effort between Genomics Core (KU Leuven) and Medical University of Lublin. Since GWS is often associated with rearrangements near the BHLHA9 locus, we conducted low-pass whole genome sequencing (0.1x coverage) (WGS) to confirm or exclude changes in this region. However, no copy number variation, or any other mutation could be identified in this area. Therefore, to determine the cause of GWS in this three generation family we will perform medium depth coverage (30x) WGS on four family members. This will allow us to carry out a comprehensive analysis, starting with the detection of the causative SNV to broader SV changes. The obtained results will be rigorously check by manual review using the IGV program and available databases (UCSC, dbSNP, ClinVar, OMIM, ENSEMBL, VistaEnhancer, Human Phenotype Ontology etc.) as well as the literature. in order to determine the final list of changes that may cause the disease. The final result will be a short list of mutations that are likely to cause the phenotype.

Date:15 Oct 2018 →  15 Oct 2022
Keywords:Gollop-Wolfgang Syndrome, Whole Genome Sequencing, Copy Number Variation, Structural Variation
Disciplines:Medical imaging and therapy, Other paramedical sciences, Genetics, Systems biology, Molecular and cell biology
Project type:PhD project