SAL-like protein 4
The SALL4 gene encodes a zinc finger transcription factor. Mutations cause autosomal dominant disorders Acro-renal-ocular syndrome and IVIC syndrome.
Genetests:
Related Diseases:
References:
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MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.
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Terhal P et al. (2006) A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.
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Koshiba-Takeuchi K et al. (2006) Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
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Kohlhase J et al. (2005) SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
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Kohlhase J et al. (2002) Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.
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Deloukas P et al. () The DNA sequence and comparative analysis of human chromosome 20.
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7. |
Collins A et al. (1993) Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.
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8. |
None (1994) Thalidomide may be a mutagen.
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Paradisi I et al. (2007) IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
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10. |
Masuda S et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.
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11. |
Suzuki E et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.
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12. |
Hopkins LJ et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.
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13. |
Yong KJ et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.
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14. |
Miertus J et al. (2006) 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.
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15. |
Borozdin W et al. (2004) SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
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16. |
Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.
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17. |
Kohlhase J et al. (2003) 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.
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Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
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Al-Baradie R et al. (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
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20. |
Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.
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21. |
Becker K et al. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.
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22. |
Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.
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23. |
Orphanet article
Orphanet ID 118456
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24. |
NCBI article
NCBI 57167
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25. |
OMIM.ORG article
Omim 607343
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26. |
Wikipedia article
Wikipedia EN (SALL4)
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Update: Aug. 14, 2020