title: 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.
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.
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Nara
authors.initials: N
authors.lastname: Sobreira
authors.forename: Peggy
authors.initials: P
authors.lastname: Modaff
authors.forename: Gary
authors.initials: G
authors.lastname: Steel
authors.forename: Jing
authors.initials: J
authors.lastname: You
authors.forename: Sonia
authors.initials: S
authors.lastname: Nanda
authors.forename: Julie
authors.initials: J
authors.lastname: Hoover-Fong
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.forename: Richard M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D013131:Spine / Q000000981:diagnostic imaging; D000097682:Lamin B Receptor
chemical_list: D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor
keywords: Pelger-Huet anomaly; bone dysplasia; lamin B receptor; metaphyseal dysplasia; phenotype-genotype correlation; spondylometaphyseal dysplasia; spontaneously remitting bone dysplasias; whole exome sequencing