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. (27th October 2014)

• Record Type: Journal Article
• Authors: Sobreira, Nara; Modaff, Peggy; Steel, Gary; You, Jing; Nanda, Sonia; Hoover‐Fong, Julie; Valle, David; Pauli, Richard M.
• Is Part Of: American journal of medical genetics. Volume 167:Number 1(2015:Jan.)
• Page Start: 159
• Page End: 163
• Publication Date: 2014-10-27
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36808
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36808-sec-0001" sec-type="section"> <p>We describe a boy who has an anadysplasia‐like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of <italic>LBR</italic> 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 <italic>LBR</italic> can result in a mild, spontaneously regressing bone dysplasia. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>