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

Journal of Medical Genetics

Volumn 53, Issue 8, 2016, Pages 568-574

  Iida, Aritoshi ^a   Xing, Weirong ^b,c   Docx, Martine K F ^d   Nakashima, Tomoki ^e,f   Wang, Zheng ^a,g   Kimizuka, Mamori ^h   Hul, Wim Van ⁱ   Rating, Dietz ^j   Spranger, Jürgen ^k   Ohashi, Hirohumi ^l   Miyake, Noriko ^m   Matsumoto, Naomichi ^m   Mohan, Subburaman ^b,c   Nishimura, Gen ⁿ   Mortier, Geert ⁱ   Ikegawa, Shiro ^a,h  

^a Institute of Physical and Chemical Research   (Japan)

^b Jerry L Pettis Memorial VA Medical Center   (United States)

^c LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Queen Paola Children's Hospital   (Belgium)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^f JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^g INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^h National Rehabilitation Center for the Disabled   (Japan)

ⁱ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^j St Annastiftskinderkrankenhaus ^*  (Germany)

^k UNIVERSITY OF FREIBURG   (Germany)

^l SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^m YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁿ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LEUCINE RICH REPEAT KINASE 1; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG; LRRK1 PROTEIN, HUMAN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; EPIPHYSIS; GENE DELETION; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MALE; METAPHYSIS; MOLECULAR PATHOLOGY; MOUSE; MUTATIONAL ANALYSIS; NERVE ENDING; NONHUMAN; OSTEOBLAST; OSTEOCLAST; OSTEOCLASTOGENESIS; OSTEOCYTE; OSTEOLYSIS; OSTEOSCLEROSIS; OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; ALBERS SCHOENBERG DISEASE; ANIMAL; BONE; CHONDRODYSPLASIA; GENETICS; HOMOZYGOTE; MUTATION; PATHOLOGY;

ANIMALS; BONE AND BONES; CHILD, PRESCHOOL; HOMOZYGOTE; HUMANS; MALE; MICE; MUTATION; OSTEOCHONDRODYSPLASIAS; OSTEOCLASTS; OSTEOPETROSIS; OSTEOSCLEROSIS; PROTEIN-SERINE-THREONINE KINASES;

EID: 84964345880     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103756     Document Type: Article

References (23)

1. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011;155A:943-68.
2. Nishimura G, Kozlowski K. Osteosclerotic metaphyseal dysplasia. Pediatr Radiol 1993;23:450-2.
3. Mennel EA, John SD. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. Pediatr Radiol 2003;33:11-14.
4. Kasapkara CS, Kucukcongar A, Boyunaga O, Bedir T, Oncü F, Hasanoglu A, Tumer L. An extremely rare case: osteosclerotic metaphyseal dysplasia. Genet Couns 2013;24:69-74.
5. Zheng H, Cai J, Wang L, He X. Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review. Skeletal Radiol 2015;44:1529-33.
6. Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013;92:927-34.
7. Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet 2015;87:356-61.
8. Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. Clin Genet 2015;87:395-7.
9. Hayashi M, Nakashima T, Taniguchi M, Kodama T, Kumanogoh A, Takayanagi H. Osteoprotection by semaphorin 3A. Nature 2012;485:69-74.
10. Kelly NH, Schimenti JC, Patrick Ross F, van der Meulen MCH. A method for isolating high quality RNA from mouse cortical and cancellous bone. Bone 2014;68:1-5.
11. Nakashima T, Hayashi M, Fukunaga T, Kurata K, Oh-hora M, Feng JQ, Bonewald LF, Kodama T, Wutz A, Wagner EF, Penninger JM, Takayanagi H. Evidence for osteocyte regulation of bone homeostasis through RANKL expression. Nat Med 2011;17:1231-4.
12. Xing W, Kim J, Wergedal J, Chen ST, Mohan S. Ephrin B1 regulates bone marrow stromal cell differentiation and bone formation by influencing TAZ transactivation via complex formation with NHERF1. Mol Cell Biol 2010;30:711-21.
13. Cheng S, Zhao SL, Nelson B, Kesavan C, Qin X, Wergedal J, Mohan S, Xing W. Targeted disruption of ephrin B1 in cells of myeloid lineage increases osteoclast differentiation and bone resorption in mice. PLoS ONE 2012;7:e32887.
14. Korr D, Toschi L, Donner P, Pohlenz HD, Kreft B, Weiss B. LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain. Cell Signal 2006;18:910-20.
15. Civiero L, Bubacco L. Human leucine-rich repeat kinase 1 and 2: intersecting or unrelated functions? Biochem Soc Trans 2012;40:1095-101.
16. Bosgraaf L, Van Haastert PJ. Roc, a Ras/GTPase domain in complex proteins. Biochim Biophys Acta 2003;1643:5-10.
17. Marín I. The Parkinson disease gene LRRK2: evolutionary and structural insights. Mol Biol Evol 2006;23:2423-33.
18. Stirnimann CU, Petsalaki E, Russell RB, Müller CW. WD40 proteins propel cellular networks. Trends Biochem Sci 2010;35:565-74.
19. Xing W, Liu J, Cheng S, Vogel P, Mohan S, Brommage R. Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis. J Bone Miner Res 2013;28:1962-74.
20. Harvey N, Earl S, Cooper C. Epidemiology of osteoporotic fractures. In: Favus MJ ed. Primer on the metabolic bone diseases and disorders of mineral metabolism. 6th edn. USA: American Society for Bone & Mineral, 2006:244-8.
21. Gallagher JA, Ranganath LR, Boyde A. Lessons from rare diseases of cartilage and bone. Curr Opin Pharmacol 2015;22:107-14.
22. Henriksen K, Thudium CS, Christiansen C, Karsdal MA. Novel targets for the prevention of osteoporosis-lessons learned from studies of metabolic bone disorders. Expert Opin Ther Targets 2015;19:1575-84.
23. Fijalkowski I, Boudin E, Mortier G, Van Hul W. Sclerosing bone dysplasias: leads toward novel osteoporosis treatments. Curr Osteoporos Rep 2014;12:243-51.