Introduction: Hypertrophic cardiomyopathy (HCM) is a heart disorder caused by autosomal dominant alterations affecting both sarcomeric genes and other nonsarcomeric loci in a minority of cases. However, in some patients, the occurrence of the causal pathogenic variant or variants in homozygosity, compound heterozygosity, or double heterozygosity has also been described. Most of the HCM pathogenic variants are missense and unique, but truncating mutations of the MYBPC3 gene have been reported as founder pathogenic variants in populations from Finland, France, Japan, Iceland, Italy, and the Netherlands.
View Article and Find Full Text PDFObjective: Hereditary hemochromatosis (HH) is a common Mendelian disorder of iron metabolism. Eighty percent of northern Europeans descendant HH patients carry the same mutation (p.C282Y) in the HFE gene.
View Article and Find Full Text PDFPhacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV.
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