Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

LBR (Lamin B Receptor) encodes a bifunctional protein important for cholesterol biosynthesis and heterochromatin organization on the inner nuclear membrane. Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from the benign Pelger-Hu ët anomaly to lethal Greenberg Dysplasia. We performed trio exome sequencing (ES) on two patients with atypical variants of skeletal dysplasia and their unaffected parents. Patient 1 exhibited frontal bossing, mid-face hypoplasia, short stature with rhizomelic limb shortening, and relative macrocep haly at birth.

Source: Bone - November 15, 2018 Category: Orthopaedics Authors: Eliza Thompson, Ebtesam Abdalla, Andrea Superti-Furga, William McAlister, Lisa Kratz, Sheila Unger, Beryl Royer-Bertrand, Belinda Campos-Xavier, Laureane Mittaz-Crettol, Asmaa K. Amin, Cori DeSanto, David B. Wilson, Ganka Douglas, Beth Kozel, Marwan Shina Tags: Full Length Article Source Type: research