It is widely accepted that at least 10% of all mutations causing human inherited disease disrupt splice-site consensus sequences. In contrast to splice-site mutations, the role of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inherited disease is still poorly understood. Here we use a top-down approach to determine rates of lo...

OBJECTIVES Whether birth by caesarean section (CS) increases the occurrence of neurodevelopmental disorders, asthma or obesity in childhood is controversial. We tried to demonstrate the association between children born by CS and the occurrence of the above three diseases at the age of 5.5 years. METHODS The database of the Taiwan Birth Cohort Study which was designed to assess the developmen...

Since it was established that defects in collagen metabolism were associated with inherited connective tissue disease (McKusick, 1972), considerable effort has been put into discovering the molecular basis of these genetic disorders. Up to 5 years ago a link between structural mutations in collagen genes and inherited connective tissue disease was considered likely, but there was little direct ...

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited...

T he data, devices, and molecular techniques that have become part of the practice of medicine as a result of the Human Genome Project are for most clinicians both inspiring and intimidating. While the potential for tests that can help make very accurate diagnoses of rare genetic diseases and that can identify genetic predispositions to more common ones is exciting, the translation of this conc...

M edical conditions that run in a family are inherited or genetic, meaning they are caused by changes in genes that are passed from generation to generation. Many different types of heart disease can be inherited. Some conditions like high blood pressure or coronary artery disease (blockages in the arteries that supply the heart with blood) run in families but probably result from a number of d...

Many inherited renal diseases have retinal features that are helpful diagnostically. These include coloboma, drusen, atrophy and pigmentation (retinitis pigmentosa), hamartoma, vascular anomalies, and crystals. Retinal abnormalities occur because the kidney and retina share developmental pathways and structural features including basement membrane collagen IV protomer composition and their vasc...

Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and dysphagia, advancing to coma and death. Treatment is possible via supplement of biotin and/or thiamine, ...