Infantile cortical hyperosteosis (ICH) is usually a self-limited disease of infancy with bony changes, soft tissue swelling, fever, irritability, decreased appetite, and decreased movement of the affected bones. Its description in isolated patients or in multiple members of families suggests the existence of two different forms, namely a sporadic form and a familial form with incomplete penetra...

PURPOSE: Non-syndromic sagittal and/or metopic craniosynostosis, occurring once in every 4,000 live births, accounts for half of all craniosynostosis cases. Despite success in identifying the genes underlying rare syndromic craniosynostoses, mutations in these genes are very rarely found in their non-syndromic counterparts. We considered that the often sporadic occurrence of non-syndromic crani...

Huntington disease (HD) is an autosomal dominant neurodegenerative disease with complete penetrance. Although the understanding of the cellular mechanisms that drive neurodegeneration in HD and account for the characteristic pattern of neuronal vulnerability is incomplete, defects in energy metabolism, particularly mitochondrial function, represent a common thread in studies of HD pathogenesis ...

Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-recordable rod electroretinograms, and marked elevation of both rod and cone thresholds in all subjec...

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia usually presenting in early childhood with variable phenotypic features and course. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones in particular, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairmen...

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, and pleuritis. Many mutations in the MEFV gene have been identified as causing FMF. However, accompanying epidemiological information remains quite scarce except in some Mediterranean countries, and the degree of penetrance has been a subject of...

Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, learning disabilities, others. While optic glioma most common CNS...

BACKGROUND Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium c...