Childhood overgrowth in patients with common NF1 microdeletions

Eur J Hum Genet. 2005 Jul;13(7):883-8. doi: 10.1038/sj.ejhg.5201419.

Abstract

While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Body Height / genetics*
  • Child
  • Child Development*
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neurofibromatosis 1 / etiology
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • Reference Values
  • Sequence Deletion*

Substances

  • Neurofibromin 1