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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

J hum genet

Publication Date

09/2014

Volume

59

Pages

484 - 487

Keywords

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