Proximal 11p deletion syndrome (P11pDS): Additional evaluation of the clinical and molecular aspects

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 400-406

  Wuyts, Wim ^a   Waeber, Gerard ^b   Meinecke, Peter ^c   Schüler, Herdit ^d   Goecke, Timm O ^e   Van Hul, Wim ^a   Bartsch, Oliver ^f  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c Altonaer Kinderkrankenhaus   (Germany)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Chromosomes 11; Multiple exostoses; P11pDS

Indexed keywords

ADULT; ANUS DISEASE; ARTICLE; BONE RADIOGRAPHY; CALCIFICATION; CASE REPORT; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FACE ASYMMETRY; FEMALE; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; FOOT MALFORMATION; FORAMEN MAGNUM; GENETIC ANALYSIS; HAND MALFORMATION; HEARING IMPAIRMENT; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MYOPIA; NYSTAGMUS; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; SKULL DISEASE; STENOSIS; STRABISMUS; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL ABNORMALITIES; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; NUCLEAR PROTEINS; PARIETAL BONE; SYNDROME; TRANS-ACTIVATORS;

EID: 2442711482     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201163     Document Type: Article

References (24)

1. Bartsch O, Wuyts W, Van Hul W et al: 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 1996; 58: 734-742.
2. Wuyts W, Bartsch O, Wilkie AO, Meinecke P, Van Hul W: Burning down DEFECT11. Am J Med Genet 2001; 100: 331-332.
3. Wuyts W, Di Gennaro G, Bianco F et al: Molecular and clinical examination of an Italian DEFECT 11 family. Eur J Hum Genet 1999; 7: 579-584.
4. Yamamoto T, Akaboshi S, Ninomiya H, Nanba E: DEFECT 11 syndrome associated with agenesis of the corpus callosum. J Med Genet 2001; 38: E5.
5. Francke U, George DL, Brown MG, Riccardi VM: Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet 1977; 19: 197-207.
6. Wuyts W, Van Hul W, Wauters J et al: Positional cloning of a gene involved in hereditary multiple exostoses, Hum Mol Genet 1996; 5: 1547-1557.
7. Gustavson HH, Annerén G, Wranne L: Two cases of 11p13 interstitial deletion and unusual clinical features. Clin Genet 1984; 26: 247-249.
8. Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F: Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly and mental retardation. Am J Med Genet 1993; 45: 581-583.
9. McGaughran JM, Ward HB, Evans DGR: WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). Am J Med Genet 1995; 32: 823-824.
10. Potocki L, Shaffer LG: Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 1996; 62: 319-325.
11. Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K: The putative tumor suppressors EXT1 and EXT2 are glycosyltranserases required for the biosynthesis of heparan sulfate. J Biol Chem 1998; 273: 26265-26268.
12. Stickens D, Clines G, Burbee D et al: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 1996; 14: 25-32.
13. Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van HW: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000; 37: 916-920.
14. Mavrogiannis LA, Antonopoulou I, Baxova A et al: Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001; 27: 17-18.
15. Bartsch O, Wagner A, Hinkel GK et al: FISH studies in 5 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet 1999; 7: 748-756.
16. Mooser V, Maillard A, Bonny C et al: Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene. Genomics 1999; 55: 202-208.
17. Lorenz P, Rupprecht E, Tellkamp H: An unusual type of acrocephalosyndactyly with bilateral parietooccipital encephalocele, micropenis and severe mental retardation. Am J Med Genet 1990; 36: 265-268.
18. Potocki L, Greenberg F, Shaffer LG: Interstitial deletion of 11(p11.12p12): a rare chromosomal syndrome with mental retardation, parietal foramina and multiple exostoses. Am J Hum Genet 1995; 57: 688.
19. Waeber G, Delplanque J, Bonny C et al: The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes. Nat Genet 2000; 24: 291-295.
20. Magara F, Haefliger JA, Thompson N et al: Increased vulnerability to kainic acid-induced epileptic seizures in mice underexpressing the scaffold protein Islet-Brain 1/JIP-1. Eur J Neurosci 2003; 17: 2602-2610.
21. Watkins H, Conner D, Thierfelder L et al: Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 434-437.
22. Bonne G, Carrier L, Bercovici J et al: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 438-440.
23. Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y: Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet 1998; 63: 1622-1630.
24. Saftig P, Hartmann D, Lullmann R et al: Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system. J Biol Chem 1997; 272: 18628-18635.