A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda

American Journal of Medical Genetics

Volumn 125 A, Issue 1, 2004, Pages 49-56

  Leroy, J G ^a,d   Leroy, B P ^a   Emmery, L V ^b   Messiaen, L ^a   Spranger, J W ^c,d  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b DEPARTMENT OF CARDIOLOGY   (Belgium)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d GREENWOOD GENETIC CENTER   (United States)

Author keywords

Autosomal recessive; Mild; Spondyloepiphyseal dysplasia tarda

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; FEMUR; GENETIC LINKAGE; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MOLECULAR GENETICS; ONSET AGE; PRIORITY JOURNAL; SHORT STATURE; SPINE; SPINE RADIOGRAPHY; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; THORAX DEFORMITY; VARUS KNEE; X CHROMOSOME LINKED DISORDER;

EID: 0842305740     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20419     Document Type: Article

References (21)

1. Ahmad M, Ul Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DF. 1998. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. Am J Med Genet 78:468-473.
2. Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ. 1998. Five families with Arginine 519-Cysteine mutation in COL2A1: Evidence for three distinct founders. Hum Mutat 12:172-176.
3. Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. 1999. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 22: 400-404.
4. Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjearg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. 2001. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 68:1386-1397.
5. Grain L, Duke O, Thompson G, Davies EG. 1994. Toledo type brachyolmia. Arch Dis Child 71:448-449.
6. Horton WA, Langer LO, Collins DL, Dwyer D. 1983. Brachyolmia, recessive type (Hobaek): A clinical, radiographic and histochemical study. Am J Med Genet 16:201-211.
7. Hurwitz JR, Suwairi MW, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli MR, Herd KJ, Van Hul E, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML. 1999. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 23:94-98.
8. Huson SM, Crowley S, Hall CM, Supramaniam G, Winter RM. 1993. Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. Clin Dysmorph 2:20-27.
9. Langer LO, Beals RK, Scott CI. 1997. Sponastrime dysplasia: Diagnostic criteria based on five new and six previously published cases. Pediat Radiol 27:409-414.
10. Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. 2000. Autosomal recessive disorder otospondyloepimetaphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet 66:368-377.
11. Sewell AC, Wern C, Pontz BF. 1991. Brachyolmia: A skeletal dysplasia with an altered mucopolysaccharide excretion. Clin Genet 40:312-317.
12. Shohat M, Lachman R, Gruber HE, Rimoin DL. 1989. Brachyolmia: Radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209-219.
13. Spranger J. 2002. Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Mucopolysaccharidoses. Chapter 98. Emery and Rimoin's Principles and Practice of Medical Genetics, IVth edition. London: Churchill Livingstone. p 2666-2676.
14. Spranger J, Albert C, Schilling F, Bartsocas C, Stöss H. 1983. Progressive pseudorheumatoid arthritis of childhood (PPAC) a hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr 140:34-40.
15. Spranger J, Poznanski A, Brill P. 2002. Bone dysplasias. Atlas on genetic disorders of skeletal development, 2nd. Urban/Fischer München: Oxford Medical Publishers, New York.
16. Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, clubfoot and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624.
17. Superti-Furga A, Bonafé L, Rimoin DL. 2001. Molecular pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet (Semin Med Genet) 106:282-293.
18. Toledo SPA, Mourao PAS, Lamego C, Alves CAR, Dietrich CP, Assis LM, Mattar E. 1978. Recessively inherited, late onset, spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis. Am J Med Genet 2:385-395.
19. Ul Haque MF, King LM, Krakow D, Cantar RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. 1998. Mutations in orthologous genes in human spondylometaphyseal dysplasia and the brachymorphic mouse. Nat Genet 20:157-162.
20. Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ. 1993. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-Cys mutation in the procollagen type II gene (COL2A1). Hum Genet 92:499-505.
21. Wynne-Davies R, Hall C, Ansell BM. 1982. Spondyloepiphyseal dysplasia tarda with progressive arthropathy. A new disorder of autosomal recessive inheritance. J Bone Joint Surg Br 64:442-445.