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

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.

Author information

1
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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

PMID:
25348816
PMCID:
PMC4882113
DOI:
10.1002/ajmg.a.36808
[Indexed for MEDLINE]
Free PMC Article

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