ArticleJournal of medical genetics2003
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
117 citing papers in PubMed, 1 synthesis or guideline pooled it, 302 citations in OpenAlex.
- Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.American journal of human genetics · 2004Pooled it
- Oral cleft prevention program (OCPP).BMC pediatrics · 2012Trial
- A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts.Genes to cells : devoted to molecular & cellular mechanisms · 2026Article
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient.Human genome variation · 2026Article
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- PRMT1-methylated MSX1 phase separates to control palate development.Nature communications · 2025Article
- Detection of regions of homozygosity in an unusual case of frontonasal dysplasia.Molecular cytogenetics · 2024Article
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- Single-Nucleotide Polymorphisms inDiagnostics (Basel, Switzerland) · 2024Article
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish.Frontiers in cell and developmental biology · 2024Review
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- Article
- Dental anomalies and their therapeutic implications: retrospective assessment of a frequent finding in patients with cleft lip and palate.BMC oral health · 2022Article
- PARD3 gene variation as candidate cause of nonsyndromic cleft palate only.Journal of cellular and molecular medicine · 2022Article
- SATB2: A versatile transcriptional regulator of craniofacial and skeleton development, neurogenesis and tumorigenesis, and its applications in regenerative medicine.Genes & diseases · 2022Review
- Association ofInternational journal of environmental research and public health · 2021Article
- Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.Human genome variation · 2021Article
- Innovative Molecular and Cellular Therapeutics in Cleft Palate Tissue Engineering.Tissue engineering. Part B, Reviews · 2021Review
- Expression Analysis ofBiology · 2021Article
57 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 6 institutions in 4 countries.
Funding
Abstract
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and sequence highly conserved elements. The samples studied were drawn from a panethnic collection including people of European, Asian, and native South American ancestry. The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in seven unrelated subjects with clefting are described. Evolutionary sequence comparisons of all known Msx1 orthologues placed the amino acid substitutions in context. Four rare mutations were found in non-coding regions that are highly conserved and disrupt probable regulatory regions. In addition, a panel of 18 population specific polymorphic variants were identified that will be useful in future haplotype analyses of MSX1. MSX1 mutations are found in 2% of cases of clefting and should be considered for genetic counselling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.