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

作者：Sobreira Nara; Modaff Peggy; Steel Gary; You Jing^*; Nanda Sonia; Hoover Fong Julie; Valle David; Pauli Richard M

来源：American Journal of Medical Genetics, Part A, 2015, 167(1): 159-163.

DOI：10.1002/ajmg.a.36808

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

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.

• 出版日期2015-1
• 单位河北医科大学