Sotos


So·tos

(sō'tōs), J.F., 20th-century U.S. pediatrician. See: Sotos syndrome.

NSD1

A gene on chromosome 5q35 that encodes a protein that enhances androgen receptor transactivation, especially in the presence of other androgen receptor-associated coregulators. NSD1 acts as a nucleus-localised, basic transcriptional factor and as a bifunctional transcriptional regulator.
Molecular pathology
NSD1 mutations cause Sotos syndrome and Weaver syndrome, as well as a form of childhood acute myeloid leukaemia with a cryptic translocation, with breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, trithorax domain protein 1 on chromosome 5 and nucleoporin 98-kD on chromosome 11.