Okihiro syndrome is caused by SALL4 mutations

Human Molecular Genetics

Volumn 11, Issue 23, 2002, Pages 2979-2987

  Cox, Roger ^a   Bouzekri, Nourdine ^b   Martin, Sabrina ^c   Southam, Lorraine ^a   Hugill, Alison ^a   Golamaully, Mahamadee ^d   Cooper, Richard ^e   Adeyemo, Adebowale ^f   Soubrier, Florent ^c   Ward, Ryk ^b   Lathrop, G Mark ^d   Matsuda, Fumihiko ^d   Farrall, Martin ^g  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c INSERM   (France)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^e LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF IBADAN   (Nigeria)

^g UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; SALL1 PROTEIN; SALL4 PROTEIN; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ARM MALFORMATION; ARTICLE; CHROMOSOME 20Q; CHROMOSOME ABERRATION; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTROLLED STUDY; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DUANE RETRACTION SYNDROME; FAMILY STUDY; FORELIMB; GENE LOCUS; GENE MUTATION; HOLT ORAM SYNDROME; HUMAN; HUMAN CELL; MEDICAL LITERATURE; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; OKIHIRO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; TOWNES BROCKS SYNDROME;

CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; DUANE RETRACTION SYNDROME; EYE ABNORMALITIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 0036848353     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Kirkham, T.H. (1970) Inheritance of Duane's syndrome. Br. J. Ophthalmol., 54, 323-329.
2. Appukuttan, B., Gillanders, E., Juo, S.H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R.J. et al. (1999) Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am. J. Hum. Genet., 65, 1639-1646.
3. Chew, C.K., Foster, R, Hurst, J.A. and Salmon, J.F. (1995) Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion. Am. J. Ophthalmol., 119, 807-809.
4. Vincent, C., Kalatzis, V, Compain, S., Levilliers, J., Slim, R., Graia, F., Pereira, M.L., Nivelon, A., Croquette, M.F., Lacombe, D. et al. (1994) A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum. Mol. Genet., 3, 1859-1866.
5. Rickard, S., Parker, M., van't Hoff, W, Barnicoat, A., Russell-Eggitt, I., Winter, R.M. and Bitner-Glindzicz, M. (2001) Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1 : molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum. Genet., 108, 398-403.
6. Cullen, P., Rodgers, C.S., Callen, D.F., Connolly, V.M., Eyre, H., Fells, P., Gordon, H., Winter, R.M. and Thakker, R.V. (1993) Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. Am. J. Med. Genet., 47, 925-930.
7. Pfaffenbach, D.D., Cross, H.E. and Kearns, T.P. (1972) Congenital anomalies in Duane's retraction syndrome. Arch. OphthalmoL, 88, 635-639.
8. Hayes, A., Costa, T. and Polomeno, R.C. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. Am. J. Med. Genet., 22, 273-280.
9. Winter, R.M. and Baraitser, M. (2001) London Dysmorphology Database. Oxford University Press, Oxford.
10. Ferrell, R.L., Jones, B. and Lucas, R.V. Jr. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes. J. Pediatr., 69, 630-634.
11. Okihiro, M.M., Tasaki, T., Nakano, K.K. and Bennett, B.K. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence. Arch. Neurol., 34, 174-179.
12. Temtamy, S.A. and McKusick, V.A. (1978) The genetics of hand malformations. Birth Defects Orig. Artic. Ser, 14, 1-619.
13. MacDermot, K. and Winter, R. (1987) Radial ray defect and duane anomaly: report of a family with autosomal dominant transmission. Am. J. Med. Genet., 27, 313-319.
14. Collins, A., Baraitser, M. and Pembrey, M. (1993) Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations. Clin. Dysmorphol., 2, 237-240.
15. Chun, B.B., Mazzoli, R.A. and Raymond, W.R. (2001) Characteristics of Okihiro syndrome. J. Pediatr. Ophthalmol. Strabismus, 38, 235-239.
16. Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U. and Engel, W (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome Nat. Genet., 18, 81-83.
17. Kohlhase, J., Schuh, R., Dowe, G., Kühnlein, R.P., Jäckle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H.A., Köhler, A., Mülller, U. et al. (1996) Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics, 38, 291-298.
18. Kohlhase, J., Hausmann, S., Stojmenovic, G., Dixkens, C., Bink, K., Schulz-Schaeffer, W., Altmann, M. and Engel, W. (1999) SALL3, a new member of the human spalt-like gene family, maps to 18q23. Genomics, 62, 216-222.
19. Deloukas, P., Matthews, L.H., Ashurst, J., Burton, J., Gilbert, J.G., Jones, M., Stavrides, G., Almeida, J.P., Babbage, A.K., Bagguley, C.L. et al. (2001) The DNA sequence and comparative analysis of human chromosome 20. Nature, 414, 865-871.
20. Kohlhase, J., Taschner, P., Burfeind, R, Pasche, B., Newman, B., Blanck, C., Breuning, M., ten Kate, L., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am. J. Hum. Genet., 64, 435-445.
21. Fraisse, J., Bertheas, M.F., Frere, F., Lauras, B., Rolland, M.O. and Brizard, C.P. (1981) Un nouveau syndrome: del (20) (ql3-qter). Localisation segmentaire de gene de l'adenosine deaminase (ADA). Ann. Genet., 24, 216-219.
22. Shabtai, F., Ben-Sasson, E., Arieli, S. and Grinblat, J. (1993) Chromosome 20 long arm deletion in an elderly malformed man. J. Med. Genet., 30, 171-173.
23. Yang, S., Sherman, S., Derstine, J. and Schonberg, S. (1990) Holt-Oram gene may be on chromosome 20. Pediatr. Res., 27, 137A.
24. Casper, J., Schmoll, H.-J., Schnaidt, U. and Fonatsch, C. (1987) Cell lines of human germinal cancer. Int. J. Androl., 10, 105-113.
25. Culbertson, M.R. (1999) RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet., 15, 74-80.
26. Hentze, M.W. and Kulozik, A.E. (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell, 96, 307-310.
27. Kohlhase, J. (2000) SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum. Mut., 16, 460-466.
28. Nishinakamura, R., Matsumoto, Y., Nakao, K., Nakamura, K., Sato, A., Copeland, N., Gilbert, D., Jenkins, N., Scully, S., Lacey, D. et al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development, 128, 3105-3115.
29. Newbury-Ecob, R.A., Leanage, R., Raeburn, J.A. and Young, I.D. (1996) Holt-Oram syndrome: a clinical genetic study. J. Med Genet., 33, 300-307.
30. Cross, S.J., Ching, Y.H., Li, Q.Y., Armstrong-Buisseret, L., Spranger, S., Lyonnet, S., Bonnet, D., Penttinen, M., Jonveaux, P., Leheup, B. et al. (2000) The mutation spectrum in Holt-Oram syndrome. J. Med. Genet., 37, 785 787.
31. Becker, K., Beales, P.L., Calvet, D.M., Matthijs, G. and Mohammed, S.N. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. J. Med. Genet., 39, 68-71.
32. McBride, W.G. (1994) Thalidomide may be a mutagen. Br. Med. J, 308, 1635-1636.
33. Lennon, G., Auffray, C., Polymeropoulos, M. and Soares, M.B. (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics, 33, 151-152.
34. Buck, A., Archangelo, L., Dixkens, C. and Kohlhase, J. (2000) Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Cytogenet. Cell Genet., 89, 150-153.
35. Jolly, D.J., Okayama, H., Berg, P., Esty; A.C., Filpula, D., Bohlen, P., Johnson, G.G., Shively, J.E., Hunkapillar, T. and Friedmann, T. (1983) Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. Proc. Natl Acad. Sci. USA., 80, 477-481.
36. Kühnlein, R.P., Frommer, G., Friedrich, M., Gonzalez-Gaitan, M., Weber, A., Wagner-Bernholz, J.F., Gehring, W., Jäckle, H. and Schuh, R. (1994) spalt encodes an evolutionary conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo. EMBO J., 13, 168-179.