NSD1 Deletion/Duplication

Test Background

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.



Lab Method


About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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