Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cel...

The revolution in genetics in the past decades has enabled identification of many of the genes associated with human hereditary diseases, and hearing loss is no exception. These discoveries have a profound impact on knowledge about inner ear function and the pathology caused by mutations in these genes, which becomes clinically and socially relevant because a significant proportion of hearing l...

background: neonates affected by hereditary spherocytosis may suffer from significant jaundice. this study was conducted on neonates with jaundice hospitalized at the children’s hospital in bandar abbas, south iran, to determine the frequency of hereditary spherocytosis among them. patients and methods: in this cross-sectional study, 814 neonates with jaundice hospitalized at the children’s hos...

Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutatio...

We describe an electroimmunodiffusion technique for measuring alpha1-fetoprotein in blood spotted on chromatography paper. The system is being used as a complementary test in a neonatal mass-screening program for detection of inborn metabolic diseases in the Province of Quebec. In a series of 102 cases of neonatal hypertyrosinemia, the test has proven to be highly discriminative for hereditary ...

Abstract Funding Acknowledgements Type of funding sources: None. Background In the last decades, implementation high-throughput next-generation (NGS) technologies has profoundly changed landscape human genome sequencing. However, molecular diagnosis in cardiac hereditary diseases is still hampered by incomplete penetrance, variable expressivity, and genetic heterogeneity diseases. Objective We ...