Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22

American Journal of Human Genetics

Volumn 63, Issue 1, 1998, Pages 120-124

  Krakow, Deborah ^a   Reinker, Kent ^d   Powell, Berkley ^e   Cantor, Rita ^a,b   Priore, Mary Ann ^a   Garber, Ann ^a   Lachman, Ralph S ^c   Rimoin, David L ^a,b   Cohn, Daniel H ^a,b,f  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF HAWAII   (United States)

^e UNIVERSITY OF HAWAII   (United States)

^f CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17Q; CLINICAL ARTICLE; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERPHALANGEAL JOINT; PRIORITY JOURNAL; SYNDROME DELINEATION; SYNOSTOSIS;

HAWAIIA;

EID: 0032231746     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301921     Document Type: Article

References (21)

1. Cooperative Human Linkage Center, http://www.chlc.org (for markers used for DNA typing)
2. Généthon, http://genethon.fr/genethon_enhtml (for markers used for DNA typing)
3. Genome Database, http://www.gdb.org (for primer sequences used for DNA typing)
4. Human Transcript Map, http://www.ncbi.nlm.nih.gov/ science96 (for the HOXB gene cluster)
5. International Skeletal Dysplasia Registry, http://www.csmc .edu/genetics/skeldys/default.html (for large family [reference R95-127] with multiple synostoses syndrome)
6. Online Mendelian inheritance in man (OMIM), http:// www.ncbi.nlm.nih.gov/Omim (for multiple synostoses syndrome [MIM 186400/186500] and SYM1 [MIM 185800])
7. Whitehead Institute for Biomedical Research, http://www .genome.wi.mit.edu (for markers used for DNA typing)
8. Dib C, Faure S, Fizames C, Smason D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
9. Fuhrmann WG, Steffens CH, Rompe U (1966) Dominant erbliche doppelseitige Dysplasie und Synostose des Ellenbogengelenks mit symmetrischer Brachymesophalangie und Brachymetakarpie sowie Synostosen im Finger-, Hand-und Fusswurzelbereich. Humangenetik 3:64-75
10. Gaal SA, Doyle JR, Larsen IJ (1987) Symphalangism and its introduction into Hawaii: a pedigree. Hawaii Med J 46: 305-307
11. Herrmann J (1974) Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. Birth Defects Orig Artic Ser 10(5):23-53
12. Hudson T, Stein L, Gerety S, Ma J, Castle A, Silva J, Slonim D, et al (1995) An STS-based map of the human genome. Science 270:1945-1954 (update: Whitehead Institute for Biomedical Research/MIT Center for Genome Research, Human Genetic Mapping Project, data release 12 [July 1997])
13. Hurvitz SA, Goodman RM, Hertz M, Katznelso MB-M, Sack Y (1985) The facio-audio-symphalangism syndrome: report of a case and review of the literature. Clin Genet 28:61-68
14. Krumlauf R (1994) Hox genes in vertebrate development. Cell 78:191-201
15. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
16. Maroteaux P, Bouvet JP, Briard ML (1972) La maladie des synostoses multiples. Nouv Presse Med 1:3041-3047
17. Muragaki Y, Mundlos S, Upton J, Olsen BR (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551
18. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, et al (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
19. Polymeropoulos MH, Poush J, Rubenstein JR, Francomano CA (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. Genomics 27:225-229
20. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
21. Strasburger AK, Hawkins MR, Eldridge R, Hargrave RL, McKusick VA (1965) Symphalangism: genetic and clinical aspects. Bull Johns Hopkins Hosp 117:108-127