Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

Molecular Function

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.

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