Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations

Acta Paediatr. 2005 Aug;94(8):1142-4. doi: 10.1111/j.1651-2227.2005.tb02059.x.

Abstract

Aim: Nuclear receptor-binding SET domain-containing protein 1 (NSD1) gene mutations and deletions (NSD1+/-) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome.

Methods: In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/- patients and patients without NSD1 gene alterations (NSD1+/+). The statistical performance of these parameters to predict NSD1+/- was assessed.

Results: Arm span-for-height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1+/- patients.

Conclusion: Arm span for height and hand length are discriminating parameters between NSD1+/- and NSD1+/+.

Publication types

  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Age Distribution
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Craniofacial Abnormalities / epidemiology
  • Craniofacial Abnormalities / genetics*
  • Developmental Disabilities / epidemiology
  • Developmental Disabilities / genetics*
  • Female
  • Follow-Up Studies
  • Growth Disorders / epidemiology
  • Growth Disorders / genetics*
  • Heterozygote*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Incidence
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Predictive Value of Tests
  • Reference Values
  • Risk Assessment
  • Sex Distribution
  • Syndrome

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human