Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

American Journal of Medical Genetics, Part A

Volumn 140, Issue 13, 2006, Pages 1375-1383

  Everman, David B ^a   Morgan, Chad T ^a   Lyle, Robert ^b,i   Laughridge, Mary E ^a   Bamshad, Michael J ^c   Clarkson, Katie B ^a   Colby, Randall ^a   Gurrieri, Fiorella ^d   Innes, A Micheil ^e   Roberson, Jacquelyn ^f   Schrander Stumpel, Connie ^g   Van Bokhoven, Hans ^h   Antonarakis, Stylianos E ^b   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d CATHOLIC UNIVERSITY   (Italy)

^e ALBERTA CHILDREN'S HOSPITAL   (Canada)

^f HENRY FORD HOSPITAL   (United States)

^g MAASTRICHT UNIVERSITY   (Netherlands)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

Author keywords

BTRC; Ectrodactyly; FBXW4; SHFM; SHFM3; Split hand foot malformation

Indexed keywords

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 7Q; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; ECTRODACTYLY; GENE; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; REAL TIME POLYMERASE CHAIN REACTION; SHFM1 GENE; SHFM2 GENE; SHFM3 GENE; SHFM4 GENE; SHFM5 GENE; SPLIT HAND FOOT MALFORMATION; SYNDACTYLY; TANDEM REPEAT;

ABNORMALITIES, MULTIPLE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; ELECTROPHORESIS, GEL, PULSED-FIELD; F-BOX PROTEINS; FOOT DEFORMITIES, CONGENITAL; GENE DUPLICATION; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC LINKAGE; HAND DEFORMITIES, CONGENITAL; HUMANS; LINKAGE (GENETICS); POLYMERASE CHAIN REACTION; SYNDROME;

EID: 33745624619     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31246     Document Type: Article

References (31)

1. Bolton BJ, Spurr NK. 1996. B-lymphocytes. In: Freshney RI, Freshney MG, editors. Culture of immortalized cells. New York: Wiley-Liss. p 283-298.
2. Braverman N, Kline A, Pyeritz RE. 1993. Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet Suppl 53:410.
3. Brunner HG, Hamel BCJ, van Bokhoven H. 2002. The p63 gene in EEC and other syndromes. J Med Genet 39:377-381.
4. Buss PW, Hughes HE, Clarke A. 1995. Twenty-four cases of the EEC syndrome: Clinical presentation and management. J Med Genet 32:716-723.
5. Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury-Ecob R, Hennekam RCM, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. 1999. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153.
6. de Mollerat XJ, Everman D, Clarkson K, Rogers C, Aylsworth A, Graham J, Stevenson RE, Schwartz CE. 2003a. P63 mutations are not a major cause of non-syndromic SHFM. J Med Genet 40:55-61.
7. de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. 2003b. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12:1959-1971.
8. Duijf PHG, van Bokhoven H, Brunner HG. 2003. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 12:R51-R60.
9. Elliott AM, Reed MH, Roscioli T, Evans JA. 2005. Discrepancies in upper and lower limb patterning in split hand foot malformation. Clin Genet 68:408-423.
10. Faiyaz ul Haque M, Uhlhaas S, Knapp M, Schuler H, Friedl W, Ahmad M, Propping P. 1993. Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. Hum Genet 91:17-19.
11. Faiyaz ul Haque M, Zaidi SH, King LM, Haque S, Patel M, Ahmad M, Siddique T, Ahmad W, Tsui LC, Cohn DH. 2005. Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes. Clin Genet 67:93-97.
12. Fukushima Y, Ohashi H, Hasegawa T. 1993. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. Clin Genet 44:50.
13. Gul D, Oktenli C. 2002. Evidence for autosomal recessive inheritance of split hand/split foot malformation: A report of nine cases. Clin Dysmorphol 11:183-186.
14. Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffre L. 1995. Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21. Am J Med Genet 55:315-318.
15. Herrmann BG, Barlow DP, Lehrach H. 1987. A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion. Cell 48:813-825.
16. Kano H, Kurosawa K, Horii E, Ikegawa S, Yoshikawa H, Kurahashi H, Toda T. 2005. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Hum Genet 118:477-483.
17. Kent WJ. 2002. BLAT-The BLAST-like alignment tool. Genome Res 12:656-664.
18. Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. 2005. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 42:292-298.
19. Le Marec B, Odent S, Treguier C. 1990. Triphalangeal thumb and split foot in the same family. Genet Couns 1:251-258.
20. Lyle R, Radhakrishna U, Blouin T-L, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel LJC, Nath SK, Neri G, Schwartz CE, Antonarakis SE. 2006. Split hand-split foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet Part A 140A:1384-1395.
21. Maniatis T. 1999. A ubiquitin ligase complex essential for the NF-κB, Wnt/Wingless, and Hedgehog signaling pathways. Genes Dev 13:505-510.
22. R Development Core Team. 2004. R: A language and environment for statistical computing. Vienna, Austria.
23. Rodini ESO, Richieri-Costa A. 1990. EEC syndrome: Report on 20 new patients, clinical and genetic considerations. Am J Med Genet 37:42-53.
24. Roelfsema NM, Cobben JM. 1996. The EEC syndrome: A literature study. Clin Dysmorphol 5:115-127.
25. Scherer SW, Poorkaj P, Massa H, Socler S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, Zhou L, Becker D, Kere J, Ignatius J, Niikawa N, Fukushima Y, Hasegawa T, Weissenbach J, Boncinelli E, Trask B, Tsui L-C, Evans JP. 1994. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet 3:1345-1354.
26. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. 1990. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458.
27. Smit AFA, Hubley R, Green P. 1996-2004. RepeatMasker Open-3.0. http://www.repeatmasker.org.
28. Temtamy SA, McKusick VM. 1978. The genetics of hand malformations. New York: Alan R. Liss. 619 p.
29. Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. 2002. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet 39:893-899.
30. Viljoen DL, Smart R. 1993. Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 2:274-277.
31. Zlotogora J. 1994. On the inheritance of the split hand/split foot malformation. Am J Med Genet 53:29-32.