Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)

American Journal of Medical Genetics

Volumn 62, Issue 3, 1996, Pages 319-325

  Potocki, Lorraine ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome 11; Contiguous gene deletion syndrome; EXT2; Multiple exostoses; Parietal foramina

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 11P; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENETIC MARKER; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; INTERSTITIAL CHROMOSOME DELETION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD; CHROMOSOMES, HUMAN, PAIR 11; CYTOGENETICS; EXOSTOSES, MULTIPLE HEREDITARY; FACE; FEMALE; GENE DELETION; HUMANS; MENTAL RETARDATION;

EID: 0029878404     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960329)62:3<319::aid-ajmg22>3.0.co;2-m     Document Type: Article

References (24)

1. Ahn J, Lüdecke H-J, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE (1995) : Cloning of the putative tumour suppressor gene for hereditary-multiple exostoses (EXT1). Nature Genet 11:137-143.
2. Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Kinkel GK, Powell CM, Shaffer LG, Willems PJ (1996): Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet (in press).
3. Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980): Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163-166.
4. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, Wijsman E, Hecht JT, Wells D, Wagner MJ (1993): Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53:71-79.
5. Francke U, George DL, Brown MG, Riccardi VM (1977). Gene dose effect: Intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of lip. Cytogenet Cell Genet 19:197-207.
6. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994): The 1993-94 Généthon human genetic linkage map. Nature Genet 7:246-249.
7. Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M (1995): Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56:1125-1131.
8. Hennekam RCM (1991): Hereditary multiple exostoses. J Med Genet 28:262-266.
9. LeMerrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P (1994): A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 3:717-722.
10. Lorenz P, Rupprecht E, Teilkamp H (1990): An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. Am J Med Genet 36:265-268.
11. Lüdecke H-J, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig K-R, Meinecke P, Zabel B, Horsthemke B (1991): Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet 49:1197-1206.
12. McGaughran JM, Ward HB, Evans DGR (1995): WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). J Med Genet 32:823-824.
13. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG (1995): Deletions of the elastin gene at 7q11.23 occur in -90% of patients with Williams syndrome. Am J Hum Genet 56:1156-1161.
14. Olson TM, Michels W, Lindor NM, Pastores GM, Weber JL, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN (1993): Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7. Hum Mol Genet 2:869-873.
15. Raskind WH, Conrad EU, Chansky H, Matsushita M (1995): Loss of heterzygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56:1132-1139.
16. Schinzel A (1988): Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet 25:454-462.
17. Schmale GA, Conrad EU, Raskind WH (1994): The natural history of hereditary multiple exostoses. J Bone Joint Surg 76A:986-992.
18. Schmickel RD (1986): Contiguous gene syndromes: A component of recognizable syndromes. J Pediatr 109:231-241.
19. Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F (1993a): Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet 45:581-583.
20. Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH (1993b): Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386.
21. Solomon L (1963): Hereditary multiple exostoses. J Bone Joint Surg 458:292-304.
22. Wicklund CL, Pauli RM, Johnston D, Hecht JT (1995): Natural history study of hereditary multiple exostoses. Am J Med Genet 55:43-46.
23. Wu Y-Q, Heutink P, de Vries BBA, Sandkuijl LA, van den Ouweland AMW, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJJ (1994): Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet 3:167-171.
24. Wuyts W, Ramlakhan S, Van Hul W, Hecht J, van den Ouweland AMW, Raskind WH, Hofstede FC, Reyniers E, Wells DE, de Vries B, Conrad EU, Hill A, Zalatayev D, Weissenbach J, Wagner MJ, Bakker E, Halley DJJ, Willems PJ (1995): Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet 57:382-387.