A new acro-osteolysis syndrome caused by duplications including PTHLH.
J Hum Genet
; 59(9): 484-7, 2014 Sep.
Article
in En
| MEDLINE
| ID: mdl-25007883
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Gene Duplication
/
Acro-Osteolysis
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Parathyroid Hormone-Related Protein
/
DNA Copy Number Variations
/
Mutation
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2014
Document type:
Article
Affiliation country:
New Zealand
Country of publication:
United kingdom