ArticleJournal of human genetics2006
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2013Pooled it
- Trial
- NovelChildren (Basel, Switzerland) · 2024Article
- Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.Genes & genomics · 2023Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- Two novel mutations in MSX1 causing oligodontia.PloS one · 2020Article
- Deleterious Variants inInternational journal of molecular sciences · 2019Article
- Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.PloS one · 2018Article
- Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.Scientific reports · 2016Article
- MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.European journal of human genetics : EJHG · 2016Review
- Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis.Journal of pediatric genetics · 2016Review
- Article
- Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies.Indian journal of dentistry · 2014Article
- Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.Genetics and molecular research : GMR · 2013Article
- Genes and dental disorders.Clujul medical (1957) · 2013Review
- Molecular factors resulting in tooth agenesis and contemporary approaches for regeneration: a review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2012Review
- Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2011Article
- Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.European journal of human genetics : EJHG · 2011Article
- Msx1 mutations: how do they cause tooth agenesis?Journal of dental research · 2011Article
- Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.BMC evolutionary biology · 2009Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tooth agenesis constitutes the most common anomaly of dental development in humans. In the majority of familial cases of hypodontia alone or in association with other anomalies, the mode of inheritance is autosomal dominant. In the present study, we have identified two distantly related consanguineous Pakistani kindreds with an autosomal recessive form of oligodontia with associated dental anomalies. Locus in this case has been mapped on chromosome 4p16.1-p16.3. The maximum two-point LOD score of 2.85 (theta=0.0) was obtained at markers D4S2925 and D4S2285. A maximum multipoint LOD score exceeding 4 was obtained at the same markers. Recombination events observed in affected individuals localized the disease locus between markers D4S412 and D4S2935, spanning a 9.24-cM region on chromosome 4p16.1-p16.3. Sequence analysis of candidate gene MSX1 revealed a novel recessive missense mutation resulting in substitution of alanine to threonine amino acid (p. A219T), located in the MSX1 homeodomain, which is important for DNA binding and protein-protein interaction. The mutation, p. A219T, is the first recessive mutation identified in MSX1.
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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.