SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 88, Issue 433, 1999, Pages 55-59

  Cormier Daire, V ^a   Belin, V ^a   Cusin, V ^a   Viot, G ^a   Girlich, D ^a   Toutain, A ^b   Moncla, A ^c   Vekemans, M ^a   Le Merrer, M ^a   Munnich, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Centre de Pediatrie Clocheville   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

Dyschondrosteosis; Hemizygosity; Homeobox; Homozygosity; Madelung deformity; SHOX gene

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME TRANSLOCATION X; CHROMOSOME TRANSLOCATION Y; CLINICAL FEATURE; CONFERENCE PAPER; DWARFISM; DYSCHONDROSTEOSIS; GENE DELETION; GENETIC LINKAGE; HOMEOBOX; HUMAN; MARKER GENE; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

BONE DISEASES; CHILD; CHROMOSOME DELETION; DWARFISM; FOREARM; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MICROSATELLITE REPEATS; MUTATION; PEDIGREE; SYNDROME;

EID: 0033431823     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (16)

1. Leri A, Weill J. Une affection congénitale et symétrique du développement osseux: la dyschondrostéose. Bull Mém Soc Med Hosp (Paris) 1929; 35: 1491-4
2. Madelung V. Die spontane Subluxation der Hand nach vorne. Arch Klin Chir 1878; 23: 395-412
3. Lichtenstein JR, Sundaram M, Burdge R. Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis. J Med Genet 1980; 17: 41-3
4. Pfeiffer RA. Observations in a case of an X/Y translocation, t(X;Y) (p22;q11), in a mother and son. Cytogenet Cell Genet 1980; 26: 150-7
5. Castillo S, Youlton R, Be C. Dyschondrosteosis is controlled by X and Y linked loci. Cytogenet Cell Genet 1985; 40: 601-2
6. Guichet A, Briault S, Le Merrer M, Moraine C. Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? Clin Dysmorphol 1997; 6: 341-5
7. Esperitu C, Chen H, Wooley P. Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. Am J Dis Child 1975; 129: 375-7
8. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63
9. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997; 6: 1341-7
10. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-4
11. Toutain A, Sirinelli D, Paillet C, Bonnard C, Body G, Maroteaux P, et al. Dysplasie mésomélique de Reinhart-Pfeiffer ou dyschondrostéose? La distinction est-elle fondée? Ann Pediatr (Paris) 1991; 38: 37-45
12. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998; 19: 67-9
13. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998; 19: 70-3
14. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989; 86: 10001-5
15. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P. Chromosomal localisation of a pseudoautosomal growth gene(s). J Med Genet 1992; 29: 624-8
16. Collins A, Frezal J, Teague J, Morton NE. A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 1996; 93: 14771-5