Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene.
Juvenile Paget disease (JPD) {MIM 239000} is a rare inherited bone disease that affects children. The patients affected with JPD present an altered bone turnover, therefore, show a phenotype characterized by progressive bone deformities, fractures, and short stature. Deletions or missense mutations of the TNFRSN11B gene are common in these children. This gene encodes a soluble protein, the osteoprotegerin, which leads to uncontrolled osteoclastogenesis when mutated. JPD is characterized by a strong genotype-phenotype correlation, so depending on the alteration of the TNFRSN11B gene, the phenotype is variable. This review describes the different clinical features which are characteristic of JPD and the correspondence with the different molecular alterations of the TNFRSN11B gene.
Department of Basic Medical Sciences, Section of Human Anatomy and Histology, University of Bari, Bari, Italy.
Giacomina
G
Brunetti
Flaviana
F
Marzano
Silvia
S
Colucci
Annamaria
A
Ventura
Luciano
L
Cavallo
Maria
M
Grano
Maria Felicia
MF
Faienza
D019943:Amino Acid Substitution; D000818:Animals; D001862:Bone Resorption / Q000209:etiology; D002648:Child; D018450:Disease Progression; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010001:Osteitis Deformans / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D053244:Osteoprotegerin / Q000235:genetics* / Q000378:metabolism; D012720:Severity of Illness Index
D053244:Osteoprotegerin; C506030:TNFRSF11B protein, human