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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
Open accessAbstract
We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the TBX5 locus, as well as acro-renal-ocular syndrome. We analysed further families/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 mutations. We identified a novel SALL4 mutation in one family where the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. We also found two novel mutations in two German families originally diagnosed as Holt-Oram syndrome and a further mutation in one out of two families carrying the diagnosis acro-renal-ocular syndrome. 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. Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations.
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“HIC1, HIC2, GZF1, OSR1, OSR2, and SALL4 have all been implicated in development”
From Defining the human C2H2 zinc finger degrome targeted by thalidomide analogs through CRBN (2018) · cites this paper as [30]
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“and could contribute to developmental abnormalities in fetuses exposed to thalidomide (25–30).”
From Defining the human C2H2 zinc finger degrome targeted by thalidomide analogs through CRBN (2018) · cites this paper as [30]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Remarkably, both DRRS and HOS have large phenotypic overlaps with thalidomide embryopathy (Kohlhase et al., 2003)”
From Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome (2018) · cites this paper as Kohlhase et al., 2003
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“Several of the ZFs identified as degraded in functional experiments, or in vitro binders that could be targeted with further drug development, have been implicated in human disease.”
From Defining the human C2H2 zinc finger degrome targeted by thalidomide analogs through CRBN (2018) · cites this paper as [30]
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“Strikingly, human genetic research has shown that familial loss of function (LOF) mutations in SALL4 are causatively linked to the clinical syndromes, Duane Radial Ray syndrome (DRRS) also known as Okihiro syndrome, and mutated in some patients with Holt-Oram syndrome (HOS).”
From Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome (2018) · cites this paper as Kohlhase et al., 2003
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Citations
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Metadata
- Authors
- Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., & Reardon, W.
- Affiliations
- University of Göttingen (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Northwick Park Hospital (GB)
- Guy's Hospital (GB)
- St Michael's Hospital (GB)
- Children's Health Ireland at Crumlin (IE)
- Corresponding author
- Kohlhase, J
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2003-07
- Volume
- 40
- Issue
- 7
- Pages
- 473-478
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1735528
- OpenAlex
- W2142039491
- Cited by
- 185
- References
- 28
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 12 · 2023: 4 · 2022: 10 · 2021: 5 · 2020: 10 · 2019: 7 · 2018: 10 · 2017: 5 · 2016: 11 · 2015: 8 · 2014: 12 · 2013: 7 · 2012: 6
- FWCI
- 5.13
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- GRO (submittedVersion)
- Funders
- Hospital for Sick Children
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- SALL4, Holt-Oram syndrome, thalidomide embryopathy, zinc finger transcription factor, TBX5, novel mutations, genotype-phenotype overlap, congenital heart disease, limb malformations
- MeSH terms
- Abnormalities, Multiple, Base Sequence, Chromosomes, Human, Pair 20, DNA, DNA Mutational Analysis, Duane Retraction Syndrome, Family Health, Female, Fetal Diseases, Hand Deformities, Congenital, Heart Septal Defects, Atrial, Humans, Kidney, Male, Mutation, Pedigree, Phenotype, Thalidomide, Thumb, Transcription Factors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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