Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by median cleft of the hands and/or feet due to absence/hypoplasia central rays. It may occur as part syndromic condition or an isolated malformation. The most common six genetic loci identified for this correlated SHFM1 and maps in 7q21q22 region. autosomal dominant transmission, incomplete penetrance variable expres...

PURPOSE Leber hereditary optic neuropathy (LHON) is a common cause of inherited blindness, primarily due to one of three mitochondrial DNA (mtDNA) mutations. These mtDNA pathogenic mutations have variable clinical penetrance. Recent linkage evidence raised the possibility that the nuclear gene optic atrophy 1 (OPA1) determines whether mtDNA mutation carriers develop blindness. To validate these...

Many single-locus, two-allele selection models of genomic imprinting have been shown to reduce formally to one-locus Mendelian models with a modified parameter for genetic dominance. One exception is the model where selection at the imprinted locus affects the sexes differently. We present two models of maternal inactivation with differential viability in the sexes, one with complete inactivati...

Supravalvular aortic stenosis (McKusick 18550) is a rare hereditary condition with autosomal dominant transmission. However, the available data have been limited to small family groups which do not allow the definition of the degree of penetrance of the disease. The present study describes a large family with a high frequency of supravalvular aortic stenosis including five generations and 80 su...

Understanding the pathogenetic chain of events between genotype and phenotype is critical to the appropriate diagnosis and treatment of heritable diseases. Although our knowledge of the molecular substrate of many diseases continues to increase, identifying the mechanistic links between a susceptibility variant and disease expression remains a major challenge. A minority of mendelian diseases d...