Article
Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2010
Fryssira H, Drossatou P, Sklavou R, Barambouti F, Manolaki N
Abstract excerpt
Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome. Fluorescent in situ hybridization analysis (FISH), MLPA or multiplex quantitative PCR allow detection of total/partial NSD1 deletions and direct sequencing allows detection of NSD1 mutations. We describe two boys with Sotos syndrome in whom PCR amplification and direct sequencing of the...
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