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

Nara Sobreira, Peggy Modaff, Gary Steel, Jing You, Sonia Nanda, Julie E Hoover Fong, David Valle, Richard M. Pauli

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)159-163
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number1
DOIs
StatePublished - Jan 1 2015

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Developmental Bone Disease
Mutation
Genes
Exome
Natural History
lamin B receptor
Strudwick syndrome

Keywords

  • Bone dysplasia
  • Lamin B receptor
  • Metaphyseal dysplasia
  • Pelger-Huet anomaly
  • Phenotype-genotype correlation
  • Spondylometaphyseal dysplasia
  • Spontaneously remitting bone dysplasias
  • Whole exome sequencing

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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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.",
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AU - Modaff, Peggy

AU - Steel, Gary

AU - You, Jing

AU - Nanda, Sonia

AU - Hoover Fong, Julie E

AU - Valle, David

AU - Pauli, Richard M.

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