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: Nara Sobreira, Peggy Modaff, Gary Steel, Jing You, Sonia Nanda, Julie Hoover-Fong, David Valle, Richard M Pauli
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 167A Issue 1 Pg. 159-63 (Jan 2015) ISSN: 1552-4833 [Electronic] United States
• PMID: 25348816 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• Receptors, Cytoplasmic and Nuclear
• lamin B receptor

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Mutation (genetics)
• Osteochondrodysplasias (diagnostic imaging, genetics, pathology)
• Phenotype
• Pregnancy
• Radiography
• Receptors, Cytoplasmic and Nuclear (genetics)
• Spine (diagnostic imaging)