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.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology