Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
Abstract
Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.
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In humans, mutation and haploinsufficiency of ALX4 are associated with skull ossification defects.
“In humans, mutation and haploinsufficiency of ALX4 are associated with skull ossification defects [88], [89].”
Cites
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
Wilkie, A. O. M., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R. F., Hurst, J. A., Wall, S. A., Chrzanowska, K. H., & Maxson, R. E. (2000) · Nature Genetics · doi:10.1038/74224 · Cited by 315 · see citing works
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Livingston, B. T., Killian, C. E., Wilt, F., Cameron, A., Landrum, M. J., Ermolaeva, O., Sapojnikov, V., Maglott, D. R., Buchanan, A. M., & Ettensohn, C. A. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.07.047 · Cited by 243 · see citing works
Genetic advances in craniosynostosis
Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38159 · Cited by 129 · see citing works
Higdon, C. W., Mitra, R. D., & Johnson, S. L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0067801 · Cited by 125 · see citing works
Mirzayans, F., Lavy, R., Penner-Chea, J., & Berry, F. B. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049095 · Cited by 36 · see citing works
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
McGillivray, G., Savarirayan, R., Cox, T. C., Stojkoski, C., McNeil, R., Bankier, A., Bateman, J. F., Roscioli, T., Gardner, R. J. M., & Lamandé, S. R. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.027888 · Cited by 34 · see citing works
Mild nasal clefting may be predictive for <i>ALX4</i> heterozygotes
Altunoglu, U., Satkın, B., Uyguner, Z. O., & Kayserili, H. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36578 · Cited by 18 · see citing works
- Authors
- Mavrogiannis, L. A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C. A., Sugayama, S. M., Salamanca, A., Wall, S. A., Morriss-Kay, G. M., & Wilkie, A. O. M.
- Affiliations
- University of Oxford (GB)
- Universidade de São Paulo (BR)
- Universidad de Granada (ES)
- John Radcliffe Hospital (GB)
- Churchill Hospital (GB)
- Corresponding author
- Wilkie, Andrew O.M.
- Venue
- Nature Genetics
- Published
- 2001-01
- Volume
- 27
- Issue
- 1
- Pages
- 17-18
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1502390560
- Cited by
- 147
- References
- 1
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 5 · 2017: 3 · 2016: 2 · 2015: 10 · 2014: 5 · 2013: 4 · 2012: 6
- FWCI
- 7.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
- Keywords
- ALX4, haploinsufficiency, parietal foramina, homeobox genes, exostosis, Msx2, EXT2, genetic heterogeneity
- MeSH terms
- Animals, Base Sequence, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Genes, Homeobox, Humans, Molecular Sequence Data, Mutation, Osteogenesis, Phenotype, Proteins, Skull, Transcription Factors, Homeodomain Proteins, Craniofacial Abnormalities, Physical Chromosome Mapping, Mice
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