Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C
نویسندگان
چکیده
منابع مشابه
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier disease/Maffucci syndrome, two developmental disorders defined by the presence of multiple enchondromas. In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in encho...
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Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis w...
متن کاملOllier disease
Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier dise...
متن کاملThe literature review of Ollier disease
Enchondroma is a common, benign, hyaline-cartilage-forming tumor in the medulla of the bone, occurs at metaphysis or extended to diaphysis, and usually a single lesion. When there are multiple enchondromas, the term enchondromatosis is applied. There are 7 subtypes of enchondromatosis; the most common subtypes are Ollier disease and Maffucci syndrome which are distinguished by the presentation ...
متن کاملOllier Disease: Pathogenesis, Diagnosis, and Management.
Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple enchondromatosis with a typical asymmetrical distribution and confined to the appendicular skeleton. The pathogenesis of enchondromatosis is not clearly understood. Recently, heterozygous mutations of PTHR1, IDH1 (most common), and/or IDH2 genes have been suggested by various authors as genetic aberrations...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2004
ISSN: 1059-7794
DOI: 10.1002/humu.20095