Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

We present 3 molecularly confirmed families: 1 with Acyl CoA oxidase deficiency and 2 with D-bifunctional protein deficiency. The clinical, biochemical, and radiological features of these patients have been discussed. We attempt to highlight the overlap in facial features as well as strikingly similar MRI findings of cerebellar atrophy and white matter hyperintensities. This unique clinical profile will not only help in reaching a quick diagnosis, but in this era of variants of uncertain significance, it will prove as supporting evidence. Finally, we expand the genotypic spectrum with a description of 3 homozygous novel mutations (HSD17B4: c.670C#x3e;T, c.1807T#x3e;C;ACOX1: 1.03-kb exonic deletion) and discuss the role of protein modeling its establishing pathogenicity.Mol Syndromol

Source: Molecular Syndromology - September 30, 2020 Category: Molecular Biology Source Type: research