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Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

J Med Genet.. 2016-08; 
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.
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PCR Cloning and Subcloning ... Lentiviral plasmid of pSSFV-LRRK1 was generated by replacing green fluorescent protein (GFP) with a synthesised 3xFLAG/LRRK1 DNA (GenScript, Piscataway, New Jersey, USA) at the restriction sites of SgfI and PmeI of the pRRLsin-cPPT-SFFV-GFP-wpre vector. ... Get A Quote
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摘要

BACKGROUND: Osteosclerotic metaphyseal dysplasia (OSMD) is a unique form of osteopetrosis characterised by severe osteosclerosis localised to the bone ends. The mode of inheritance is autosomal recessive. Its genetic basis is not known. OBJECTIVE: To identify the disease gene for OSMD. METHODS AND RESULTS: By whole exome sequencing in a boy with OSMD, we identified a homozygous 7 bp deletion (c.5938_5944delGAGTGGT) in the LRRK1 gene. His skeletal phenotype recapitulated that seen in the Lrrk1-deficient mouse. The shared skeletal hallmarks included severe sclerosis in the undermodelled metaphyses and epiphyseal margins of the tubular bones, costal ends, vertebral endplates and margins of the flat bones. T... More

关键词

LRRK1 mutation; Lrrk1 deficient mouse; Osteosclerotic metaphyseal dysplasia; Whole exome sequencing