Mapping human genetic disease mutations
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I am interested in gene identification and mutation characterization in human diseases including the genes for Congenital vertical talus (CVT)and pes cavus, Familial Encephalopathy with Neuroserpin inclusion bodies(FENIB), Dent disease, Desbuquois dysplasia and Autism genetics.
Familial Encephalopathy with Neuroserpin inclusion bodies(FENIB) is a rare autosomal dominant disorder characterized by dementia and epilepsy and unique inclusion bodies in the cerebral cortex. Specific mutations in the Neuroserpin gene (SERPINI1)can result in neuroserpin polymerization and accumulation within neurones. These inclusion bodies are composed of aggregates of mutant neuroserpin which are correlated with disease severity.
Investigation of a family with autosomal dominant congenital vertical talus (CVT)and/or pes cavus lead to the identification of a mutation in the HOXD10 gene.
Dent disease is an X-linked disorder characterized by renal Fanconi syndrome with nephrocalcinosis and renal stones, with mutations so far identified in the CLCN5 and OCRL1 genes.