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Gene Review

SALL4  -  spalt-like transcription factor 4

Homo sapiens

Synonyms: DRRS, HSAL4, Sal-like protein 4, ZNF797, Zinc finger protein 797, ...
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Disease relevance of SALL4

  • SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development [1].
  • Our results show that some cases of "thalidomide embryopathy" might be the result of SALL4 mutations, resulting in an increased risk for similarly affected offspring [2].
  • Heterozygous mutations of SALL4 on chromosome 20q13.13--> q13.2 cause the autosomal dominant Okihiro syndrome which is characterized by radial limb defects, Duane anomaly and hearing loss [3].

High impact information on SALL4

  • Human mutations in TBX5, a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc-finger transcription factor, cause similar upper limb and heart defects [4].
  • Seventeen mutations, including six missense mutations in TBX5 and two mutations in SALL4, were found in 19 kindreds with HOS [5].
  • A new member of the SAL family of proposed C(2)H(2) zinc finger transcription factors, SALL4, falls within the region [1].
  • We have characterized the human SALL4 gene on chromosome 20q13.13-q13 [6].
  • The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development [7].

Biological context of SALL4


Anatomical context of SALL4


Other interactions of SALL4


Analytical, diagnostic and therapeutic context of SALL4


  1. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Al-Baradie, R., Yamada, K., St Hilaire, C., Chan, W.M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E.J., Raymond, W.R., Okumura, S., Okihiro, M.M., Engle, E.C. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S.N., Newbury-Ecob, R., Reardon, W. J. Med. Genet. (2003) [Pubmed]
  3. Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Kohlhase, J., Heinrich, M., Liebers, M., Fröhlich Archangelo, L., Reardon, W., Kispert, A. Cytogenet. Genome Res. (2002) [Pubmed]
  4. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Koshiba-Takeuchi, K., Takeuchi, J.K., Arruda, E.P., Kathiriya, I.S., Mo, R., Hui, C.C., Srivastava, D., Bruneau, B.G. Nat. Genet. (2006) [Pubmed]
  5. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Brassington, A.M., Sung, S.S., Toydemir, R.M., Le, T., Roeder, A.D., Rutherford, A.E., Whitby, F.G., Jorde, L.B., Bamshad, M.J. Am. J. Hum. Genet. (2003) [Pubmed]
  6. Okihiro syndrome is caused by SALL4 mutations. Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R.M., Reardon, W. Hum. Mol. Genet. (2002) [Pubmed]
  7. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Sakaki-Yumoto, M., Kobayashi, C., Sato, A., Fujimura, S., Matsumoto, Y., Takasato, M., Kodama, T., Aburatani, H., Asashima, M., Yoshida, N., Nishinakamura, R. Development (2006) [Pubmed]
  8. SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice. Ma, Y., Cui, W., Yang, J., Qu, J., Di, C., Amin, H.M., Lai, R., Ritz, J., Krause, D.S., Chai, L. Blood (2006) [Pubmed]
  9. Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide. Kohlhase, J., Holmes, L.B. Birth defects research. Part A, Clinical and molecular teratology. (2004) [Pubmed]
  10. SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. Böhm, J., Sustmann, C., Wilhelm, C., Kohlhase, J. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  11. sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. Harvey, S.A., Logan, M.P. Development (2006) [Pubmed]
  12. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J. Hum. Genet. (2006) [Pubmed]
  13. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Terhal, P., Rösler, B., Kohlhase, J. Am. J. Med. Genet. A (2006) [Pubmed]
  14. A computerized system for reviewing medical records from physicians' offices. Garnick, D.W., Lawthers, A.G., Palmer, R.H., Moentmann, S.J., Fowles, J., Weiner, J.P. The Joint Commission journal on quality improvement. (1994) [Pubmed]
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