An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias

Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27.

Abstract

We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia.

Keywords: Pelger-Huet anomaly; bone dysplasia; lamin B receptor; metaphyseal dysplasia; phenotype-genotype correlation; spondylometaphyseal dysplasia; spontaneously remitting bone dysplasias; whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology*
  • Phenotype
  • Pregnancy
  • Radiography
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Spine / diagnostic imaging

Substances

  • Receptors, Cytoplasmic and Nuclear
  • lamin B receptor