title: Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.
authors.forename: Morag
authors.initials: M
authors.lastname: Collinson
authors.forename: Samantha J
authors.initials: SJ
authors.lastname: Leonard
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Charlton
authors.forename: John A
authors.initials: JA
authors.lastname: Crolla
authors.forename: Caroline
authors.initials: C
authors.lastname: Silve
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hall
authors.forename: Colin
authors.initials: C
authors.lastname: Oglivie
authors.forename: Margaret A
authors.initials: MA
authors.lastname: James
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Smithson
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000378:metabolism; D058674:Chromosome Duplication; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D004247:DNA / Q000235:genetics; D015536:Down-Regulation; D004687:Enchondromatosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D044162:Parathyroid Hormone-Related Protein / Q000235:genetics*; D011859:Radiography; D044168:Receptor, Parathyroid Hormone, Type 1 / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: C473449:PTH1R protein, human; C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D044168:Receptor, Parathyroid Hormone, Type 1; D004247:DNA