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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

2014; Wiley; Volume: 167; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.36808

1552-4833

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

Cellular Mechanics and Interactions

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. © 2014 Wiley Periodicals, Inc.