Gray Mary J, van Kogelenberg Margriet, Beddow Rachel, Morgan Tim, Wordsworth Paul, Shears Deborah J, Robertson Stephen P, Hurst Jane A
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Cytogenetics Laboratory, Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.
J Hum Genet. 2014 Sep;59(9):484-7. doi: 10.1038/jhg.2014.58. Epub 2014 Jul 10.
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.
甲状旁腺激素样激素（PTHLH，MIM 168470）是一种体液因子，在结构和功能上与甲状旁腺激素相关，它介导对软骨细胞、成骨细胞和破骨细胞功能的多种影响。PTHLH基因座及其编码受体PTHR1的基因发生突变和拷贝数失衡，会导致多种骨骼发育异常，包括E型短指症、艾肯综合征、詹森干骺端软骨发育不良和布洛姆斯特兰德型软骨发育不良。在此，我们描述了三名PTHLH基因座重复的个体，其中两名是这些失衡的嵌合体，导致了一种迄今未被认识的综合征，其特征为肢端骨质溶解、长骨皮质不规则和干骺端内生软骨瘤。
