Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones (predominantly at the metaphyses) and vertebrae, ribs, clavicles, and iliac crest. Mutations in the leucine-rich repeat kinase 1 (LRRK1) gene have been found to play a role in this disease.
Howaldt A, Hennig AF, Rolvien T, Rossler U, Stelzer N, Knaus A, Bottger S, Zustin J, Geissler S, Oheim R, Amling M, Howaldt HP, Kornak U
タイトル
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S
タイトル
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
