A5086785638- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- RNA regulation and disease
- Ubiquitin and proteasome pathways
- Proteoglycans and glycosaminoglycans research
- Genetics and Neurodevelopmental Disorders
- Bone and Dental Protein Studies
- Congenital heart defects research
- Radiomics and Machine Learning in Medical Imaging
- Protease and Inhibitor Mechanisms
- Cancer Genomics and Diagnostics
Stellenbosch University
2021-2023
Tygerberg Hospital
2021-2022
Abstract Hemizygous loss‐of‐function variants in the non‐POU domain‐containing, octamer‐binding gene, NONO , cause X‐linked mental retardation syndrome 34 (MRXS34). Here, we describe 12th patient literature with this rare syndrome, first affected male from sub‐Saharan Africa. This South African presented dysmorphic features, congenital cardiac abnormalities (Ebstein's anomaly, left ventricular non‐compaction, and a VSD), developmental delay. He was enrolled our “Undiagnosed Disease...
Abstract The Undiagnosed Disease Program in South Africa (UDP) sought to prospectively evaluate the clinical utility of exome sequencing (ES) a phenotypically diverse, multi‐ethnic cohort African patients with suspected rare genetic disorders. ES was undertaken 100 sequential (93 singletons, 3 duos, and 4 trios) recruited UDP at Stellenbosch University. data were analyzed through two separate bioinformatics pipelines (EVIDENCE from billion our in‐house pipeline). A definitive diagnosis could...
Abstract A large fraction of monogenic disorders causes craniofacial abnormalities with characteristic facial morphology. These can be diagnosed more efficiently the support computer-aided next-generation phenotyping tools, such as DeepGestalt. tools have learned to associate phenotypes underlying syndrome through training on thousands patient photographs. However, this “supervised” approach means that diagnoses are only possible if disorder was part set. To improve recognition ultra-rare...
Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder characterised by skeletal fragility and an increased fracture incidence. It occurs in approximately one every 15-20,000 births known to vary considerably its severity. This report aimed use next-generation sequencing (NGS) technology identify disease genes causal variants South African patients with clinical-radiological features of OI. A total 50 affected individuals were recruited at Tygerberg Hospital's Medical Genetics...
The linkeropathies are a group of rare disorders, characterized by overlapping clinical features involving the skeletal and connective tissues. Each "linker" gene encodes an enzyme responsible for addition glycosaminoglycan chains to proteoglycans via common tertrasaccharine linker region. original descriptions autosomal recessive B3GALT6-related disorder showed that associated pleiotropic, spanning dysplasia (Spondyloepimetaphyseal with joint laxity) (SEMD-JL1) tissue (Ehlers-Danlos...