HGM 2011 - Dubai, UAE

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Andre Megarbane


Title: Linkage analysis and cloning of the gene responsible of the leukodystrophy and oligodontia syndrome

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic condition characterized by progressive ataxia and pyramidal syndrome and abnormalities in the white matter and cortical atrophy. A genomewide linkage analysis, using the 260k SNPs Affymetrix array was then undertaken and a maximum multipoint lod scores of 5.66 (NPL score = 7.65) was detected on chromosome 10q22 region. This genomic interval contains 95 known genes including the Prosaposin gene (PSAP) responsible for metachromatic leukodystrophy, which was excluded. Seventeen additional candidate genes were tested and excluded. Recently, sequencing of a gene allowed to identify the causative gene in this rare disease, thereby improving the understanding of the physiopathology of this disease. Ten other families collected worldwild were analyzed as well. Mutations were found in 6 of them. We will discuss the results of this study.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies