Why study human limb malformations?

Journal of Anatomy

Volumn 202, Issue 1, 2003, Pages 27-35

  Wilkie, Andrew O M ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Congenital limb malformations; Digits

Indexed keywords

ALLELE; COMPARATIVE STUDY; FINGER MALFORMATION; GENE CONTROL; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; HUMAN; INTRAUTERINE GROWTH RETARDATION; LIMB DEVELOPMENT; LIMB MALFORMATION; MOUSE; NONHUMAN; PLEIOTROPY; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REVIEW; TERATOGENICITY;

ANIMALS; CHORIONIC VILLI SAMPLING; EXTREMITIES; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GESTATIONAL AGE; HEDGEHOG PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MICE; MORPHOGENESIS; MUTATION; PREGNANCY; RESEARCH DESIGN; SPECIES SPECIFICITY; TRANS-ACTIVATORS;

MAMMALIA;

EID: 0037278130     PISSN: 00218782     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-7580.2003.00130.x     Document Type: Review

References (53)

1. Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, et al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nature Genet. 25, 419-422.
2. Anderson J, Burns HD, Enriquez-Harris P, Wilkie AOM, Heath JK (1998) Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum. Mol. Genet. 7, 1475-1483.
3. Ballabio A (1993) The rise and fall of positional cloning? Nature Genet. 3, 277-279.
4. Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, et al. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Natl. Acad. Sci. USA 96, 2919-2924.
5. Biesecker LG (2001) Genotype-phenotype correlation in human GLI3 disorders. Eur. J. Hum. Genet. 9 (Suppl. 1), 76.
6. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, et al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genet. 25, 423-426.
7. Bourgeois P, Bolcato-Bellemin A-L, Danse J-M, Bloch-Zupan A, Yoshiba K, Stoetzel C, et al. (1998) The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum. Mol. Genet. 7, 945-957.
8. Brunner HG, Hamel BCJ, van Bokhoven H (2002) The p63 gene in EEC and other syndromes. J. Med. Genet. 39, 377-381.
9. Chen Z-F, Behringer RR (1995) twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev. 9, 686-699.
10. Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, et al. (1998) Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nature Genet. 19, 51-55.
11. Clough MV, Hamlington JD, McIntosh I (1999) Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum. Mutat. 14, 459-465.
12. Cohn MJ, Bright PE (1999) Molecular control of vertebrate limb development, evolution and congenital malformations. Cell Tissue Res. 296, 3-17.
13. Daluiski A, Yi SE, Lyons KM (2001) The molecular control of upper extremity development: implications for congenital hand anomalies. J. Hand Surg. 26A, 8-22.
14. Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, et al. (2001) A novel acropectoral syndrome maps to chromosome 7q36. J. Med. Genet. 38, 304-309.
15. Farabee WC (1903) Hereditary and sexual influence in meristic variation: a study of digital malformations in man. Thesis, Harvard University.
16. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, et al. (2001) Identification of the gene for oral-facial-digital type I syndrome. Am. J. Hum. Genet. 68, 569-576.
17. Firth HV, Boyd PA, Chamberlain PF, MacKenzie IZ, Morriss-Kay GM, Huson SM (1994) Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet 343, 1069-1071.
18. Gao B, Guo J, She C, Shu A, Yang M, Tan Z, et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nature Genet. 28, 386-388.
19. Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C (2001) A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer syndrome-like phenotypes. Proc. Natl. Acad. Sci. USA 98, 3855-3860.
20. Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, et al. (1994) The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nature Genet. 6, 287-292.
21. Holmes LB (2002) Teratogen-induced limb defects. Am. J. Med. Genet. 112, 297-303.
22. J mutation contains an intragenic deletion of the Gli3 gene. Nature Genet. 3, 241-246.
23. Ianakiev P, van Baren MJ, Daly MJ, Toledo SPA, Cavalcanti MG, Correa Neto J, et al. (2001) Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am. J. Hum. Genet. 68, 38-45.
24. Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Ornitz DM, Mohammadi M (2001) Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc. Natl. Acad. Sci. USA 98, 7182-7187.
25. Innis JW, Mortlock DP (1998) Limb development: molecular dysmorphology is at hand! Clin. Genet. 53, 337-348.
26. Jarvik GP, Patton MA, Homfray T, Evans JP (1994) Non-Mendelian transmission in a human developmental disorder: split hand/split foot. Am. J. Hum. Genet. 55, 710-713.
27. Joenje H, Patel KJ (2001) The emerging genetic and molecular basis of Fanconi anaemia. Nat. Rev. Genet. 2, 446-457.
28. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nature Genet. 18, 81-83.
29. Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Turnpenny P, et al. (2002) Okihiro syndrome is caused by SALL4 mutations. Hum. Mol. Genet. 11, 2979-2987.
30. Lam YH, Tang MHY, Sin SY, Ghosh A, Lee CP (1997) Limb reduction defects in fetuses with homozygous α-thalassaemia-1. Prenat. Diag. 17, 1143-1146.
31. Lettice LA, Horikoshi T, Heaney SJH, van Baren MJ, van der Linde HC, Breedveld GJ, et al. (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc. Natl. Acad. Sci. USA 99, 7548-7553.
32. Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S (1999) Genetics of limb anomalies in humans. Trends Genet. 15, 409-417.
33. Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, et al. (2001) Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genet. 27, 17-18.
34. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13, 48-53.
35. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen H-j, Beck JS, et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genet. 31, 435-438.
36. Nishinakamura R, Matsumoto Y, Nakao K, Nakamura K, Sato A, Copeland NG, et al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development 128, 3105-3115.
37. Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, et al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the lgII-lgIII linker of FGFR2. Hum. Mol. Genet. 6, 137-143.
38. Ornitz DM, Marie PJ (2002) FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev. 16, 1446-1465.
39. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, et al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet. 12, 241-247.
40. Preston RA, Post JC, Keats BJB, Aston CE, Ferrell RE, Priest J, et al. (1994) A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nature Genet. 7, 149-153.
41. Qu S, Tucker SC, Ehrlich JS, Levorse JM, Flaherty LA, Wisdom R, et al. (1998) Mutations in mouse Aristaless-like 4 cause Strong's luxoid polydactyly. Development 125, 2711-2721.
42. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet. 8, 98-103.
43. Ruiz-Perez VL, Ide SE, Strom TM, Loren ZB, Wilson D, Woods K, et al. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genet. 24, 283-286.
44. Shin SH, Kogerman P, Lindström E, Toftgárd R, Biesecker LG (1999) GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc. Natl. Acad. Sci. USA 96, 2880-2884.
45. Shubin N, Tabin C, Carroll S (1997) Fossils, genes and the evolution of animal limbs. Nature 388, 639-648.
46. Slaney SF, Oldridge M, Hurst JA, Morriss-Kay GM, Hall CM, Poole MD, et al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58, 923-932.
47. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genet. 25, 79-82.
48. Tsukurov O, Boehmer A, Flynn J, Nicolai J-P, Hamel BCJ, Traill S, et al. (1994) A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nature Genet. 6, 282-286.
49. Vortkamp A, Gessler M, Grzeschik K-H (1991) GLI3 zinc-finger gene interrupted by translocations in Greig syndrome famlies. Nature 352, 539-540.
50. Wilkie AOM, Patey SJ, Kan S-H, van den Ouweland AMW, Hamel BCJ (2002) FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am. J. Med. Genet 112, 266-278.
51. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165-172.
52. Winter RM, Huson SM (1988) Greig cephalopolysyndactyly syndromes: a possible mouse homologue (Xt-Extra-toes). Am. J. Med. Genet. 31, 793-798.
53. Yu K, Herr AB, Waksman G, Ornitz DM (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Natl. Acad. Sci. USA 97, 14536-14541.