PMC10282739_01
(A,B) Clinical photographs of proband showing triangular face, proptosis, hypertelorism, prominent nasal bridge continuing to forehead, micrognathia. (C) Mild clinodactyly was observed on her right hand. (D) Sequence chromatograms of the de novo truncating variant in NSD2 with their locations indicated by black arrow. (E) Schematic diagram of the location of the NSD2 gene domains and variants. (PWWP, Pro-Trp-Trp-Pro conserved motif; HMG, High mobility group box; PHD, Plant Homeodomain finger; AWS, associated with SET domain; SET, suppressor of variegation, enhancer of zeste, and Trithorax domain).
fped-11-1064783-g001.jpg
PMC10282739_01_fped-11-1064783-g001.jpg
F1
A 7 year-old-girl was referred to the Genetic Department of Guangxi Maternal and Child Health Hospital for delayed development and growth on November 17th, 2019 (Figure 1).