Wolf-Hirschhorn syndrome and a split-hand malformation

American Journal of Medical Genetics

Volumn 75, Issue 4, 1998, Pages 351-354

  Bamshad, Michael ^a   O'Quinn, Janis R ^b   Carey, John C ^a  

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

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Ectrodactyly; Limb malformation; Wolf Hirschhorn

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 4P; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 4; ECTRODACTYLY; FEMALE; FOOT MALFORMATION; GENE LOCUS; HAND MALFORMATION; HEMIMELIA; HUMAN; INFANT; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 4; ECTROMELIA; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); TRANSLOCATION, GENETIC;

CANIS;

EID: 0032477709     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980203)75:4<351::AID-AJMG3>3.0.CO;2-T     Document Type: Article

References (22)

1. Boles RG, Prober ER, McGrath J, Yang-Feng TL (1993): Interstitial deletion of 2q24.2-q31.1 causes characteristic distal limb malformations. Am J Hum Genet [Suppl] 53:406.
2. Braverman N, Kline A, Pyeritz R (1993): Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet [Suppl] 53:410.
3. Brown JM, Wedden SE, Millburn GH, Robson LG, Hill RE, Davidson DR, Tickle C (1993): Experimental analysis of the control of expression of the homeobox-gene Msx-1 in the developing limb bud and face. Development 119:41-418.
4. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (1996): Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 5:571-579.
5. Davidson DR, Hill RE (1991): Msh-like genes: A family of homeobox genes with wide ranging expression during vertebrate development. Semin Dev Biol 2:405-112.
6. Faiyaz-ul-Haque M, Uhlhass S, Knapp M, Schuler H, Friedl W, Ahmad M, Propping P (1993): X-chromosome split-hand/split-foot anomaly maps to Xq26. Am J Hum Genet [Suppl] 51:189.
7. Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G (1993): Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet 47:823-831.
8. Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P (1996): A split hand-split foot (SHFM3) gene is located at 10q24-q25. Am J Med Genet 62:427-436.
9. Haspelagh M, Fryns JP, Moorman PH (1984): Severe limb malformations in 4p deletion. Clin Genet 25:353-356.
10. Ivens A, Flavin N, Williamson R, Dixon M, Bates G, Buckingham M, Robert B (1990): The human homeobox gene Hox7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn Syndrome. Hum Genet 84:473-476.
11. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mullken JB, Maxson R (1993): A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450.
12. Johnson KR, Lane PW, Ward-Bailey P, Davisson MT (1995): Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression. Genomics 29:457-464.
13. McKusick VA (1994): A catalog of human genes and genetic disorders. In:
14. Nelson K, Holmes L (1980): Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med 320:19-23.
15. Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP (1995): A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum Mol Genet 4:2165-2170.
16. Palmer S, Scherer S, Kukolich M, Wijsman E, Tsui L-C, Stephens K, Evans JP (1994): Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet 55:21-26.
17. Satokata I, Maas R (1994): Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356.
18. Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, Berg MA, Donlon T, Rivera H, Pfeiffer RA, Naritomi K, Hughes H, Genuardi M, Gurrieri F, Neri G, Lovrein E, Magenis E, Tsui L-C, Evans JP (1994): Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band 921.3-922.1. Am J Hum Genet 55:12-20.
19. Stadler HS, Padanilam BJ, Buetow K, Murray JC, Solursh M (1992) Identification and genetic mapping of a homeobox gene to the 4p16.1 region of humanum chromosome 4. Proc Nat Acad Sci 89:11579-11583.
20. Temtamy SA, Mckusick VA (1978): "The Genetics of Hand Malformations." New York: Alan R. Liss, Inc. 53-71.
21. Verma IC, Joseph R, Bhargava S, Mehta S (1976): Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet 9:8-14.
22. 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.