Overgrowth syndromes and genomic imprinting: From mouse to man

Clinical Genetics

Volumn 53, Issue 3, 1998, Pages 165-170

  Li, M ^a   Squire, J A ^b   Weksberg, R ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Beckwith Wiedemann syndrome; Simpson Golabi Behmel syndrome

Indexed keywords

GLYPICAN; SOMATOMEDIN B;

ANIMAL CELL; BECKWITH WIEDEMANN SYNDROME; BODY GROWTH; CHROMOSOME 11P; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINICAL GENETICS; GENE DELETION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE TARGETING; GENOME IMPRINTING; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIMPSON GOLABI BEHMEL SYNDROME; X CHROMOSOME LINKAGE;

EID: 0031943536     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02668.x     Document Type: Review

References (21)

1. Lalande M. Parental imprinting and human disease. Annu Rev Genet 1997: 30: 173-195.
2. Li M, Squire JA, Weksberg R. Molecular genetics of Beckwith-Wiedemann syndrome. Curr Opin Pediatr 1997: 9: 623-629.
3. Hatada I.,Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, Niikawa N, Inoue M, Komoto Y, Akira O, Steichen E, Ohashi H, Fukushima Y, Nakayama M, Mukai T. New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997: 100: 681-683.
4. KIP2 is mutated in Beckwith-Wiedemann syndrome [see comments]. Nat Genet 1996: 14: 171-173.
5. KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 1997: 61: 304-309.
6. KIP2 are present in some cases of Beckwith Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 1997: 61: 295-303.
7. Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 1993: 5: 143-150.
8. Lee MP, Hu RJ, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements [see comments]. Nat Genet 1997: 15: 181-185.
9. Barlow, DR. Competition - a common motif for the imprinting mechanism? EMBO J 1997: 16: 6899-6905.
10. KIP2 results in increased apoptosis and delayed differentiation during mouse development. Genes Dev 1997: 11: 973-983.
11. KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 1997: 387: 151-158.
12. Ferguson-Smith AC, Cattanach BM, Barton SC, Beechey CV, Surani M. Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 1991: 351: 667-670.
13. Ludwig T, Eggenschwiler J, Fisher P, D'Ercole AJ, Davenport ML, Efstratiadis A. Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev Biol 1996: 177: 517-535.
14. Lau MM, Stewart CE, Liu Z, Bhatt H, Rotwein P, Stewart CL. Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev 1994: 8: 2953-2963.
15. Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A, Tilghman SM. Disruption of imprinting caused by deletion of the H19 gene region in mice [see comments]. Nature 1995: 375: 34-39.
16. Leighton PA, Saam JR, Ingram RS, Stewart CL, Tilghman SM. An enhancer deletion affects both H19 and Igf2 expression. Genes Dev 1995: 9: 2079-2089.
17. Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev 1997: 11: 3128-3142.
18. Sun F-L, Dean WL, Kelsey G, Allen ND, Reik W. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 1997: 389: 809-815.
19. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome [see comments]. Nat Genet 1996: 12: 241-247.
20. Song HH, Shi W, Filmus J. OCI-5/rat glypican-3 binds to fibroblast growth factor-2 but not to insulin-like growth factor-2, J. Biol. Chem. 1996: 272: 7574-7577.
21. Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN. Imprinting of Igf2 and H19: Lack of reciprocity in sporadic BWS. HMG 1997: 6: 1543-1548.