Soto's Syndrome Analysis

Sotos syndrome is a disease that causes a child to grow unusually rapidly, especially in the cephalic region, resulting in abnormal growth of the brain and a corresponding array of developmental disabilities (Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015). This disorder is an autosomal dominant disorder (McKusick, 2015) and has been found to be a result of mutations in the NSD1 gene (Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015), on the chromosome 5q35 (Faravelli, 2005; McKusick, 2015). There are over 100 mutations that have been found in the NSD1 gene, with all of them occurring de novo and at no specific spot in the gene (Faravelli, 2005).

NSD1 contains 8088 base pairs, 23 exons, and translates into a protein that is 2696 amino acids long (Faravelli, 2005). This gene, along with the rest of the NSD family, have been found to be strongly linked to cell growth and differentiation (Faravelli, 2005). …show more content…
The NSD1 gene most likely gets its cell growth and differentiation properties from the PWWP superfamily as it has been found to be associated with proteins that assist with those functions (Marchler-Bauer et al.,