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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]
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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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Cassina, M., Cagnoli, G. A., Zuccarello, D., Gianantonio, E. D., & Clementi, M. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.09.011 · Cited by 26
Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression
Böhm, J., Kaiser, F. J., Borozdin, W., Depping, R., & Kohlhase, J. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.03.050 · Cited by 23
Self-citationFrom Molecular Mechanisms of Cardiac Development to Genetic Substrate of Congenital Heart Diseases
Cecchetto, A., Rampazzo, A., Angelini, A., Bianco, L. D., Padalino, M. A., Stellin, G., & Daliento, L. (2010) · Future Cardiology · doi:10.2217/fca.10.10 · Cited by 22
Ru, W., Koga, T., Wang, X., Guo, Q., Gearhart, M. D., Zhao, S., Murphy, M., Kawakami, H., Corcoran, D., Zhang, J., et al. (2022) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.102607 · Cited by 20
“Dysfunctional SALL4 pathway is associated with severe human diseases, including Holt-Oram syndrome (17), acro-renal-ocular syndrome (18), leukemogenesis, and other cancers (19).”
BackgroundRodriguez, E. F., Chen, L., Ao, M.-H., Geddes, S., Gabrielson, E., Askin, F. B., Zhang, H., & Li, Q. K. (2014) · Translational Respiratory Medicine · doi:10.1186/s40247-014-0010-7 · Cited by 21
Lu, J., Jeong, H., Kong, N. R., Yang, Y., Carroll, J., Luo, H. R., Silberstein, L. E., YupoMa, & Chai, L. (2009) · PLoS ONE · doi:10.1371/annotation/e0bd3a57-1ce4-4eaf-83de-034d39cac787 · Cited by 20
Role of SALL4 in hematopoiesis
Yang, J., Liao, W., & Ma, Y. (2012) · Current Opinion in Hematology · doi:10.1097/moh.0b013e328353c684 · Cited by 17
Leukemic survival factor SALL4 contributes to defective DNA damage repair
Wang, F., Gao, C., Lu, J., Tatetsu, H., Williams, D. A., Müller, L. U., Cui, W., & Chai, L. (2016) · Oncogene · doi:10.1038/onc.2016.146 · Cited by 17
Human Genetics of Ventricular Septal Defect
Perrot, A., & Sperling, S. (2024) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-44087-8_27 · Cited by 17
Lecca, D., Hsueh, S., Luo, W., Tweedie, D., Kim, D. S., Baig, A. M., Vargesson, N., Kim, Y. K., Hwang, I., Kim, S., et al. (2023) · Journal of Biomedical Science · doi:10.1186/s12929-023-00907-5 · Cited by 17
Fanconi Anemia With Concurrent Thumb Polydactyly and Dorsal Dimelia
Al-Qattan, M. M. (2011) · Annals of Plastic Surgery · doi:10.1097/sap.0b013e31822f9960 · Cited by 17
Sato, T., Ito, T., & Handa, H. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.629326 · Cited by 17
Barry, J. S., & Reddy, M. A. (2008) · Ophthalmic Genetics · doi:10.1080/13816810802354224 · Cited by 16
No evidence of SALL4‐mutations in isolated sporadic duane retraction “syndrome” (DURS)
Wabbels, B., Lorenz, B., & Kohlhase, J. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30321 · Cited by 16
Self-citationKerrigan, J. R., Thomsen, N. M., Cernijenko, A., Kochanek, S. E., Dewhurst, J., O’Brien, G., Ware, N. F., Sanchez, C. C., Manning, J. R., Ma, X., et al. (2024) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.4c02251 · Cited by 15
Kohlhase, J. (2015) · Europe PMC (PubMed Central) · Cited by 15
Self-citationMolecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome
Meur, N. L., Goldenberg, A., Adde-Michel, C., Drouin‐Garraud, V., Blaysat, G., Marret, S., Amara, S. A., Moirot, H., Joly‐Hélas, G., Macé, B., et al. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30660 · Cited by 15
Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome
Watson, J. A., Pantier, R., Jayachandran, U., Chhatbar, K., Alexander-Howden, B., Kruusvee, V., Prendecki, M., Bird, A., & Cook, A. G. (2023) · Life Science Alliance · doi:10.26508/lsa.202201588 · Cited by 14
“A number of likely pathogenic mutations have been reported for SALL4 in Okihiro syndrome patients (Kohlhase et al, 2002, 2003; Borozdin et al, 2004a, 2004b; Kohlhase et al, 2005; Diehl et al, 2015).”
A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE)
Mansour, S., Baple, E. L., & Hall, C. M. (2018) · Journal of Hand Surgery (European Volume) · doi:10.1177/1753193418800631 · Cited by 14
Tahara, N., Kawakami, H., Zhang, T., Zarkower, D. A., & Kawakami, Y. (2018) · Scientific Reports · doi:10.1038/s41598-018-34745-5 · Cited by 14
Clinical and molecular characterisation of Holt–Oram syndrome focusing on cardiac manifestations
Jhang, W. K., Lee, B. H., Kim, G.-H., Lee, J., & Yoo, H. (2014) · Cardiology in the Young · doi:10.1017/s1047951114001656 · Cited by 13
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
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