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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
Author(s) -
Sobreira Nara,
Modaff Peggy,
Steel Gary,
You Jing,
Nanda Sonia,
HooverFong Julie,
Valle David,
Pauli Richard M.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36808
Subject(s) - compound heterozygosity , genetics , exome sequencing , loss of heterozygosity , phenotype , dysplasia , biology , mutation , gene , cancer research , allele
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.