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. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Sobreira, N, Modaff, P, Steel, G, You, J, Nanda, S, Hoover-Fong, J, Valle, D, Pauli, RM |
Journal | Am J Med Genet A |
Volume | 167A |
Issue | 1 |
Pagination | 159-63 |
Date Published | 2015 Jan |
ISSN | 1552-4833 |
Keywords | Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phenotype, Pregnancy, Radiography, Receptors, Cytoplasmic and Nuclear, Spine |
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. |
DOI | 10.1002/ajmg.a.36808 |
Alternate Journal | Am. J. Med. Genet. A |
PubMed ID | 25348816 |
PubMed Central ID | PMC4882113 |
Grant List | T32 GM007471 / GM / NIGMS NIH HHS / United States T32 GM007814 / GM / NIGMS NIH HHS / United States U54 HG006542 / HG / NHGRI NIH HHS / United States |