Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH

✍ Scribed by Morag Collinson; Samantha J. Leonard; Jocelyn Charlton; John A. Crolla; Caroline Silve; Christine M. Hall; Colin Oglivie; Margaret A. James; Sarah F. Smithson

• Book ID: 101449813
• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 286 KB
• Volume: 152A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33567

✦ Synopsis

Abstract

We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down‐regulation of PTHLH expression in brachydactyly type E. Our findings suggest that abnormal PTHLH‐PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited. © 2010 Wiley‐Liss, Inc.