ArticleEuropean journal of human genetics : EJHG2006
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
Article in European journal of human genetics : EJHG, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 83 citations in OpenAlex.
- Ruptured cerebral arteriovenous malformation associated with enlarged parietal foramina: a rare surgical case with pathogenetic implications.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- The ALX4 dimer structure provides insight into how disease alleles impact function.Nature communications · 2025Article
- Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.Nature communications · 2023Article
- Clinical interest of molecular study in cases of isolated midline craniosynostosis.European journal of human genetics : EJHG · 2023Article
- Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.International journal of molecular sciences · 2023Article
- Retroperitoneal liposarcoma and craniosynostosis: possible genomic relationship, case report, and literature review.Functional & integrative genomics · 2022Review
- A Rare Congenital Cause of Epilepsy.Cureus · 2020Article
- Transcription Factors of the Alx Family: Evolutionarily Conserved Regulators of Deuterostome Skeletogenesis.Frontiers in genetics · 2020Review
- Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Review
- Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Molecular syndromology · 2016Review
- Enlarged parietal foramina: a rare forensic autopsy finding.International journal of legal medicine · 2016Review
- Large parietal midline defect with unusual ridge-like structure at the rim and persistent falcine sinus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013Article
- Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013Review
- Article
- ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.Human mutation · 2012Article
- MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.Clinics (Sao Paulo, Brazil) · 2012Article
- Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.American journal of human genetics · 2012Article
- Pitfalls in the phylogenomic evaluation of human disease-causing mutations.Journal of biology · 2009Review
- A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.European journal of pediatrics · 2006Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Heterozygous mutations of the homeobox genes ALX4 and MSX2 cause skull defects termed enlarged parietal foramina (PFM) and cranium bifidum (CB); a single MSX2 mutation has been documented in a unique craniosynostosis (CRS) family. However, the relative mutational contribution of these genes to PFM/CB and CRS is not known and information on genotype-phenotype correlations is incomplete. We analysed ALX4 and MSX2 in 11 new unrelated cases or families with PFM/CB, 181 cases of CRS, and a single family segregating a submicroscopic deletion of 11p11.2, including ALX4. We explored the correlations between skull defect size and age, gene, and mutation type, and reviewed additional phenotypic manifestations. Four PFM cases had mutations in either ALX4 or MSX2; including previous families, we have identified six ALX4 and six MSX2 mutations, accounting for 11/13 familial, but only 1/6 sporadic cases. The deletion family confirms the delineation of a mental retardation locus to within 1.1 Mb region of 11p11.2. Overall, no significant size difference was found between ALX4- and MSX2-related skull defects, but the ALX4 mutation p.R218Q tends to result in persistent CB and is associated with anatomical abnormalities of the posterior fossa. We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable. Mutation screening has a high pickup rate in PFM, especially in familial cases, but is not indicated in CRS.
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