Recent improvements in the accessibility of high-throughput genotyping have brought a great deal of attention to disease association studies[6]. It is believed that more accurate disease association is achieved with inferred haplotypes rather than with directly available genotypes. The main goal of disease association analysis is to identify gene variations or, in general, haplotypes which cont...

By CHARLES L. CROCKETT, JR., M.D., DONALD SHOTTON, M.D., CHARLES G. CRADDOCK, JR., M.D., AND BYRD S. LEAVELL, M.D. H EMORRHAGIC diathesis due to idiopathic hypoprothrombinemia was reported first in 1941 by Rhoads and Fitz-Hugh.’ A case of this type has been admitted to the Pediatric Service of the University of Virginia Hospital five times between 1945 and 1948. In the first portion of this rep...

During the last few years a quiet revolution has been taking place in our ideas about the genetical basis of inherited disease. One way in which this has been manifested is by the increasing use in the literature of the term 'genetic heterogeneity', a term which is usually meant to imply that the same or very similar clinical syndromes may be produced by a number of quite different gene mutatio...

anderson-fabry disease is a rare inherited x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase a. hereby we report a 39 year old male that presented with proteinuria and edema. histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  fabry disease in associate with iga nephropathy. fabry's disease associated wit...

Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test.The disease is inherited in an autosomal dominant fashion.  Recessively inherited and sporadic forms of...

Contactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD). Previous attempts to associate CNTN5 CNVs with ASD-susceptibility were limited by insufficient statistical power. Here, we aim clarify the putative association between and ASD-risk using large-scale case-control analyses. A CNV, shared four brothers in multiplex family ASD, was initially identified. We calculated p...