Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2010)
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. (C) 2010 Wiley-Liss, Inc.
MoreTranslated text
Key words
enchondromatosis,PTHLH,novo duplication of chromosome 12p11.23 to 12p11.22
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined