Genetic heterogeneity of synpolydactyly: A novel locus SPD3 maps to chromosome 14q11.2-q12

Clinical Genetics

Volumn 69, Issue 6, 2006, Pages 518-524

  Malik, S ^a   Abbasi, A A ^a   Ansar, M ^b   Ahmad, W ^b   Koch, M C ^a   Grzeschik, Karl Heinz ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Chromosome 14q11.2 q12; Gene mapping; SPD3; Synpolydactyly

Indexed keywords

FIBULIN; FIBULIN 1; HOMEODOMAIN PROTEIN; PROTEIN HOXD13; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 14Q; CHROMOSOME MAP; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; PEDIGREE; SYNDACTYLY;

EID: 33646770948     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00620.x     Document Type: Article

References (27)

1. Malik S, Ahmad W, Grzeschik K-H, Koch MC. A simple method for characterising syndactyly in clinical practice. Genet Couns 2005: 16 (3): 229-238.
2. Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. J Med Genet 1995: 32 (6): 421-434.
3. Sarfarazi M, Akarsu AN, Sayli BS. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet 1995: 4 (8): 1453-1458.
4. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996: 272 (5261): 548-551.
5. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 1996: 5 (7): 945-952.
6. Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002: 39 (11): 852-856.
7. Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet 1998: 63 (4): 992-1000.
8. Goodman FR, Mundlos S, Muragaki Y et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci USA 1997: 94 (14): 7458-7463.
9. Kjaer KW, Hedeboe J, Bugge M et al. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet 2002: 110 (2): 116-121.
10. Debeer P, Schoenmakers EF, Twal WO et al. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet 2002: 39 (2): 98-104.
11. Sambrook J, Russel DW. Molecular Cloning: A Laboratory Manual, 3. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 2001.
12. Malik S, Percin FE, Ahmad W et al. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. Am J Med Genet A 2005: 134 (4): 404-408.
13. Kong A, Gudbjartsson DF, Sainz J et al. A high-resolution recombination map of the human genome. Nat Genet 2002: 31 (3): 241-247.
14. O'Connell JR, Weeks DE. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998: 63 (1): 259-266.
15. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2, a data-handling program for facilitating genetic linkage and association analyses. Am J Hum Genet 1999: 65: A436.
16. Cottingham RW Jr, Idury RM, Schaeffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993: 53 (1): 252-263.
17. Schaeffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered 1994: 44 (4): 225-237.
18. Fishelson M, Geiger D. Exact genetic linkage computations for general pedigrees. Bioinformatics 2002: 18 (Suppl. 1): S189-S198.
19. Sobel E, Lange K. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996: 58 (6): 1323-1337.
20. Temtamy SA, McKusick VA. Syndactyly in the Genetics of Hand Malformations. New York: Alan R. Liss, 1978: 301-322.
21. Nakashima T, Sekiguchi T, Kuraoka A et al. Molecular cloning of a human cDNA encoding a novel protein, DAD1, whose defect causes apoptotic cell death in hamster BHK21 cells. Mol Cell Biol 1993: 13 (10): 6367-6374.
22. Nishii K, Tsuzuki T, Kumai M et al. Abnormalities of developmental cell death in Dad1-deficient mice. Genes Cells 1999: 4 (4): 243-252.
23. Arteaga-Solis E, Gayraud B, Lee SY, Shum L, Sakai L, Ramirez F. Regulation of limb patterning by extracellular microfibrils. J Cell Biol 2001: 154 (2): 275-281.
24. Chaudhry SS, Gazzard J, Baldock C et al. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 2001: 10 (8): 835-843.
25. Miner JH, Cunningham J, Sanes JR. Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. J Cell Biol 1998: 143 (6): 1713-1723.
26. Kondoh S, Sugawara H, Harada N et al. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 2002: 47 (3): 136-139.
27. Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005: 76 (1): 8-32.