ESPE Abstracts (2019) 92 P3-154

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Xuyun Hu1, Di WU1, Yuchuan Li1, Chunxiu Gong1, Yiping Shen2,3,4


1Beijing Children's Hospital, Capital Medical University, Beijing, China. 2Maternal and Child Health Hospital of Guanxi Zhuang Autonomous Region, Nanning, China. 3Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. 4Boston Children's Hospital, Harvard Medical School, Boston, USA


Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patients in one family with short stature[W1], intellectual delay and distinct facial features. We followed up this family for 7.5 years and growth hormone therapy was initialed. Our results extended the genetic spectrum of NSD2 mutation and provide evidence of GH therapy on long-term growth of NSD2 mutation patients.

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