Publications by authors named "L Worgan"
Acyl-CoA-binding domain-containing protein 5-related retinal dystrophy with leukodystrophy (ACBD5) is a peroxisomal disorder due to deficiency of ACBD5. Presenting features include retinal dystrophy, progressive leukodystrophy, and ataxia. Only seven cases of ACBD5-related retinal dystrophy have been reported in the literature to date, including one other case diagnosed in adulthood.
View Article and Find Full Text PDFAutosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar ataxia. Notably, while there were dermatological manifestations (eczema), erythrokeratoderma was not present.
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- Whole genome sequencing (WGS) shows better diagnostic results for Mendelian disorders than whole exome sequencing (WES), with a diagnostic yield of 34% in previously WES-negative families compared to 18% for reanalyzed WES.
- The cost-effectiveness analysis revealed that using WGS alone has a higher incremental cost per additional diagnosis (AU$41,916) compared to WES followed by WGS (AU$36,710) and WGS as a first-line test (AU$29,708).
- Despite WGS's superior diagnostic ability, the choice between WES and WGS ultimately hinges on specific clinical needs, local resources, and testing availability, as WES with reanalysis offers lower
Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report identified variants in leiomodin-2 (LMOD2) as a cause of neonatally-lethal DCM. Here, we describe two siblings with DCM who died shortly after birth due to heart failure.
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