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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.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Acro-renal-ocular syndrome
IVIC syndrome



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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Collins A et al. (1993) Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.

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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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Masuda S et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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Suzuki E et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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Hopkins LJ et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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Yong KJ et al. (2013) Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.

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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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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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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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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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Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.

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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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Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

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Orphanet article

Orphanet ID 118456 external link

NCBI article

NCBI 57167 external link

OMIM.ORG article

Omim 607343 external link

Wikipedia article

Wikipedia EN (SALL4) external link
Update: Aug. 14, 2020
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