Mutations in NSD1 result in Sotos syndrome, which is characterized by typical facial features (malar flushing, sparse frontotemporal hair, high bossed forehead, downslanting palpebral fissures, a long narrow face, and prominent narrow jaw), overgrowth (height and/or head circumference greater than or equal to 2 SD above the mean), and learning disability ranging from mild to severe. This condition is inherited in an autosomal dominant manner. Sequence variants account for the majority of cases; however, deletion of NSD1 is more common in the Japanese population whereas it accounts for only approximately 10% in the general population. This laboratory performs both Sanger sequencing of the NSD1 gene as well as deletion/duplication by MLPA.
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Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
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