Irene M. Leigh

TL;DR: It is shown that a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma is mapped to chromosome 1q42, and that this gene encodes fumarate hydratase, an enzyme of the tricarboxylic acid cycle.

TL;DR: To the authors' knowledge, this is the first nonsyndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.

TL;DR: Allelic analysis of patients with HPV-associated tumours revealed a striking overrepresentation of homozygous arginine-72 p53 compared with the normal population, which indicated that individuals homozygously for arginin 72 are about seven times more susceptible to HPV- associated tumorigenesis than heterozygotes.

TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.

TL;DR: The first recessive human mutation, 7901delG, in the desmoplakin gene is described which causes a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair and a dilated left ventricular cardiomyopathy and a number of the patients with this syndromic disorder suffer heart failure in their teenage years, resulting in early morbidity.