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Characterizing The Genetic Bases Of Autosomal Recessive Disorders, Nadia Awni Akawi

Dissertations

Autosomal recessive disorders have devastating effects on patients and their families. Elucidating the genetic bases of such disorders is essential to improve their clinical outcome and for implementing effective prevention programs. In this dissertation, the genetic bases of seven autosomal recessive disorders in consanguineous families were investigated using homozygosity mapping followed by candidate genes or whole-exome sequencing. Consequently, novel genomic loci and novel mutations have been revealed. The mutations underlying Silver-Russell syndrome in three families were found in OBSL1 and CUL7 genes, known to cause 3-M syndrome. In addition, the mutations identified in COL11A1 in two families were the first …