Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. Here we describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata.

Original publication

DOI

10.1038/jhg.2014.58

Type

Journal article

Journal

Journal of human genetics

Publication Date

09/2014

Volume

59

Pages

484 - 487

Addresses

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

Keywords

Humans, Acro-Osteolysis, Hajdu-Cheney Syndrome, Syndrome, Parathyroid Hormone-Related Protein, Pedigree, Gene Duplication, Mutation, Family Health, Female, Male, Comparative Genomic Hybridization, DNA Copy Number Variations