GENETIC CAUSE OF RARE DISEASE MAY BE INVOLVED IN MORE COMMON BIRTH DEFECTS

摘要

British researchers have identified a gene mutation responsible for a form of Adams-Oliver syndrome (AOS). They believe that the ARHGAP31 gene is just 1 of several other genes involved not only in AOS, but also in common birth defects found in the wider population.AOS, known to affect only about 150 families worldwide, can cause birth defects of the heart, limbs, or blood vessels. Its phenotype also includes defects of the scalp and cranium (cutis aplasia con-genita) and mottling of the skin, and varies considerably in terms of severity. Most AOS cases are autosomal dominant, but some are autosomal recessive, according to researchers in the May 13 issue of The American Journal of Human Genetics [Southgateetal, 2011].