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, Jan; Borozdin, Wiktor; Frecer, Vladimir; Tonini, Giorgio; Bertok, Sara; Amoroso, Antonio; Miertus, Stanislav; Kohlhase, Jürgen

doi:10.1007/s00439-005-0124-7

Cited by 39Genomics and Rare DiseasesCraniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

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, Jan, Borozdin, Wiktor, Frecer, Vladimir, Tonini, Giorgio, Bertok, Sara, Amoroso, Antonio, Miertus, Stanislav, Kohlhase, Jürgen·2006·Human Genetics

DOI 10.1007/s00439-005-0124-7

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Abstract

Truncating mutations of the gene SALL4 on chromosome 20q13.13-13.2 cause Okihiro and acro-renal-ocular syndromes. Pathogenic missense mutations within the SALL4 or SALL1 genes have not yet been reported, raising the question which phenotypic features would be associated with them. Here we describe the first missense mutation within the SALL4 gene. The mutation results in an exchange of a highly conserved zinc-coordinating Histidine crucial for zinc finger (ZF) structure within a C2H2 double ZF domain to an Arginine. Molecular modeling predicts that this exchange does not result in a loss of zinc ion binding but leads to an increased DNA-binding affinity of the domain. The index patient shows mild features of Okihiro syndrome, but in addition cranial midline defects (pituitary hypoplasia and single central incisor). This finding illustrates that the phenotypic and functional effects of SALL4 missense mutations are difficult to predict, and that other SALL4 missense mutations might lead to phenotypes not overlapping with Okihiro syndrome.

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The only variant with clear evidence for pathogenicity is H888R, which is within ZFC4.
“The only variant with clear evidence for pathogenicity is H888R, which is within ZFC4 (Miertus et al, 2006).”
From Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome (2023) · cites this paper as Miertus et al, 2006

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Self-citation
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. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.7.473 · Cited by 185 · see citing works
Self-citation
SALL4 and the Okihiro/Duane Radial-Ray and Acro–Renal–Ocular Syndromes
Bi, W., & Lupski, J. R. (2008) · doi:10.1093/oso/9780195306910.003.0122

Authors: Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., & Kohlhase, J.
Affiliations: University of Freiburg (DE)
IRCCS Materno Infantile Burlo Garofolo (IT)
University of Trieste (IT)
Corresponding author: Kohlhase, Jürgen
ORCID: Bertok, Sara
Amoroso, Antonio
Venue: Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2006-01-03
Volume: 119
Issue: 1-2
Pages: 154-161
ISSN: 0018-7348 (ISSN-L)
0340-6717
1432-1203
DOI: 10.1007/s00439-005-0124-7
OpenAlex: W1989000599
Cited by: 39
References: 32
Citations by year: 2025: 2 · 2024: 1 · 2023: 4 · 2022: 1 · 2021: 1 · 2020: 2 · 2017: 2 · 2016: 4 · 2015: 4 · 2014: 1 · 2013: 2 · 2012: 2
FWCI: 2.07
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Human Genetics (publishedVersion)
PubMed (publishedVersion)
FreiDok plus (Universitätsbibliothek Freiburg) (submittedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
Funders: Deutsche Forschungsgemeinschaft
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords: SALL4, missense mutations, zinc finger, DNA binding affinity, pituitary hypoplasia, SALL1, molecular modeling, genotype-phenotype correlation
MeSH terms: Base Sequence, Binding, Competitive, DNA, DNA Mutational Analysis, DNA-Binding Proteins, Duane Retraction Syndrome, Family Health, Female, Humans, Male, Models, Molecular, Pedigree, Transcription Factors, Zinc Fingers, Craniofacial Abnormalities, Mutation, Missense

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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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