SEARCH

SEARCH BY CITATION

References

  • Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. 2005. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat 26:494.
  • Ballhausen D, Bonafe L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. 2003. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 40:6571.
  • Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS. 1997. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. Am J Med Genet 68:396400.
  • Barbosa M, Sousa A, Medeira A, Lourenco T, Saraiva J, Pinto-Basto J, Soares G, Fortuna A, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L. 2010. Clinical and molecular characterization of diastrophic dysplasia in the Portuguese population. Clin Genet. doi: 10.1111/j.1399-0004.2010.01595.x. [Epub ahead of print]
  • Barrie H, Carter C, Sutcliffe J. 1958. Multiple epiphyseal dysplasia. Br Med J 2:133137.
  • Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. 2004. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet 41:366372.
  • Briggs MD, Chapman KL. 2002. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 19:465478.
  • Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, Biesecker LG, Garber AP, Lachman R, Olsen BR, Rimoin DL, Cohn DH. 1994. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am J Hum Genet 55:678684.
  • Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cekleniak JA, Knowlton RG, Cohn DH. 1995. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 10:330336.
  • Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. 1998. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet 62:311319.
  • Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. 2001. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28:393396.
  • Cilliers HJ, Beighton P. 1990. Beukes familial hip dysplasia: an autosomal dominant entity. Am J Med Genet 36:386390.
  • Collod-Beroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. 1999. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am J Hum Genet 65:917921.
  • Cotterill SL, Jackson GC, Leighton MP, Wagener R, Makitie O, Cole WG, Briggs MD. 2005. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. Hum Mutat 26:557565.
  • Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. 2001. A Mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet 69:5.
  • Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT. 1998. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Am J Med Genet 80:510513.
  • Delot E, King LM, Briggs MD, Wilcox WR, Cohn DH. 1999. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. Hum Mol Genet 8:123128.
  • Dennis NR, Renton P. 1975. The severe recessive form of pseudoachondroplastic dysplasia. Pediatr Radiol 3:169175.
  • Fairbank T. 1947. Dysplasia epiphysialis multiplex. Proc R Soc Med (Ortho Sec) 39:315317.
  • Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT. 1997. Mosaicism in pseudoachondroplasia. Am J Med Genet 70:287291.
  • Fiedler J, Stove J, Heber F, Brenner RE. 2002. Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). Am J Med Genet 112:144153.
  • Fresquet M, Jowitt TA, Ylostalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD. 2007. Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem 282:3463434643.
  • Hall JG, Dorst JP, Rotta J, McKusick VA. 1987. Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet 28:143151.
  • Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES. 1999. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet 7:664670.
  • Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J. 1995. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325329.
  • Herring JA, Hotchkiss BL. 1987. Legg-Perthes disease versus multiple epiphyseal dysplasia. J Pediatr Orthop 7:341343.
  • Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD. 1999. Identification of novel pro-alpha2(iX) collagen gene mutations in two families with distinctive oligoepiphyseal forms of multiple epiphyseal dysplasia. Am J Hum Genet 65(2 supplement):3138.
  • Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. 1998. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 103:633638.
  • Ikegawa S, Nagano A, Nakamura K. 1991. A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. Acta Orthop Scand 62:606608.
  • Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S. 2006. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A 140:12801284.
  • Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala PGR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. 2004. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet 41:5259.
  • Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. 2010. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A 152A:863869.
  • Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. 2003. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 40:942948.
  • Jakkula E, Makitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. 2005. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 13:292301.
  • Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. 2005a. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur J Hum Genet 13:547555.
  • Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD. 2005b. Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia–multiple epiphyseal dysplasia disease group. Hum Mutat 25:593594.
  • Lachman RS, Krakow D, Cohn DH, Rimoin DL. 2005. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol 35:116123.
  • Leighton MP, Nundlall S, Starborg T, Meadows RS, Suleman F, Knowles L, Wagener R, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. 2007. Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. Hum Mol Genet 16:17281741.
  • Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA, Knowlton RG, Cohn DH, Sykes B. 1998. Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia [In Process Citation]. Hum Mutat Suppl 1:S10S17.
  • Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S. 2003. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 112:8490.
  • Maddox BK, Keene DR, Sakai LY, Charbonneau NL, Morris NP, Ridgway CC, Boswell BA, Sussman MD, Horton WA, Bachinger HP, Hecht JT. 1997. The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. J Biol Chem 272:3099330997.
  • Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG. 2004. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet 125A:278284.
  • Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. 2007. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet 121:625629.
  • Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC. 1996. A mutation in the gene encoding the alpha 2 chain of the fibril- associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 12:103105.
  • Newman B, Donnah D, Briggs MD. 2000. Molecular diagnosis is important to confirm suspected pseudoachondroplasia [letter]. J Med Genet 37:6465.
  • Nundlall S, Rajpar MH, Bell PA, Clowes C, Zeeff LA, Gardner B, Thornton DJ, Boot-Handford RP, Briggs MD. 2010. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. Cell Stress Chaperones 15:835849.
  • Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. 1999. COL9A3: a Third Locus for Multiple Epiphyseal Dysplasia. Am J Hum Genet 64:10361044.
  • Pirog-Garcia KA, Meadows RS, Knowles L, Heinegard D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. 2007. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Hum Mol Genet 16:20722088.
  • Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K, Garber AP, Grover J, Lachman RS, Cohn DH. 1994. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Hum Genet 93:236242.
  • Roby P, Eyre S, Worthington J, Ramesar R, Cilliers H, Beighton P, Grant M, Wallis G. 1999. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. Am J Hum Genet 64:904908.
  • Rossi A, Superti-Furga A. 2001. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat 17:159171.
  • Sobetzko D, Eich G, Kalff-Suske M, Grzeschik KH, Superti-Furga A. 2000. Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. Am J Med Genet 90:239242.
  • Spayde EC, Joshi AP, Wilcox WR, Briggs M, Cohn DH, Olsen BR. 2000. Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. Matrix Biol 19:121128.
  • Spranger JW, Zabel B, Kennedy J, Jackson G, Briggs M. 2005. A disorder resembling pseudoachondroplasia but without COMP mutation. Am J Med Genet A 132A:2024.
  • Stefansson SE, Jonsson H, Ingvarsson T, Manolescu I, Jonsson HH, Olafsdottir G, Palsdottir E, Stefansdottir G, Sveinbjornsdottir G, Frigge ML, Kong A, Gulcher JR, Stefansson K. 2003. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 72:14481459.
  • Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. 2008. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum 58:17011706.
  • Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621624.
  • Superti-Furga A, Unger S. 2007. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143:118.
  • Susic S, Ahier J, Cole WG. 1998. Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein [In Process Citation]. Hum Mutat Suppl 1:S125S127.
  • Susic S, McGrory J, Ahier J, Cole WG. 1997. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. Clin Genet 51:219224.
  • Tan K, Duquette M, Joachimiak A, Lawler J. 2009. The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. FASEB J 23:24902501.
  • Unger S. 2002. A genetic approach to the diagnosis of skeletal dysplasia. Clin Orthop 401:3238.
  • Unger S, Bonafe L, Superti-Furga A. 2008. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol 22:1932.
  • Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH. 2001. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatr Radiol 31:1018.
  • van Mourik JB, Hamel BC, Mariman EC. 1998. A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. Am J Med Genet 77:234240.
  • Versteylen RJ, Zwemmer A, Lorie CA, Schuur KH. 1988. Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families. Skeletal Radiol 17:407412.
  • Wagener R, Ehlen HW, Ko YP, Kobbe B, Mann HH, Sengle G, Paulsson M. 2005. The matrilins–adaptor proteins in the extracellular matrix. FEBS Lett 579:33233329.
  • 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. 2011. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A:943968.
  • Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels VM, Murphy W, Prockop DJ, Ganguly A. 1995. Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519–>Cys base substitution using conformation sensitive gel electrophoresis. Hum Mol Genet 4:309312.
  • Wynne-Davies R, Hall CM, Young ID. 1986. Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). J Med Genet 23:425434.
  • Young ID, Moore JR. 1985. Severe pseudoachondroplasia with parental consanguinity. J Med Genet 22:150153.
  • Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. 2007. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet 15:150154.