On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.
Open accessAbstract
Familial severe hypodontia of the permanent dentition is a rare condition. The genetics of this entity remains unclear and several modes of inheritance have been suggested. We report here an increase in the number of congenitally missing teeth after the mating of affected subjects from two unrelated Norwegian families. This condition may be the result of allelic mutations at a single gene locus. Alternatively, incompletely penetrant non-allelic genes may show a synergistic effect as expected for a multifactorial trait with interacting gene products. This and similar kindreds may allow identification of genes involved in growth and differentiation of dental tissues by linkage and haplotype association analysis. Brittle nails, delayed growth of the hair, and delayed teething in the probands support the grouping of these conditions among the ectodermal dysplasias.
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Dermoodonto dysplasia and ED, trichoodontoonychial type show clinical signs similar to tricho-dermodysplasia-dental defects, tricho-odonto-onycho-dermal syndrome, and trichoodontoonychial dysplasia.
“Furthermore, dermoodonto dysplasia (OMIM 125640) and ED, trichoodontoonychial type (OMIM 129510) show clinical signs similar to these three EDs, despite the different suggested AD pattern with incomplete penetrance and variable expressivity [Lyngstadaas et al., 1996].”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Lyngstadaas et al., 1996
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Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S. (1987) · Archives of Disease in Childhood · doi:10.1136/adc.62.10.989 · Cited by 274 · see citing works
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Ectodermal dysplasias: Clinical and molecular review
Visinoni, Á. F., Lisboa‐Costa, T., Pagnan, N. A. B., & Chautard‐Freire‐Maia, E. A. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32864 · Cited by 181 · see citing works
- Authors
- Lyngstadaas, S. P., Nordbo, H., Gedde-Dahl, T., & Thrane, P. S.
- Affiliations
- University of Oslo (NO)
- ORCID
- Lyngstadaas, S P
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1996-02
- Volume
- 33
- Issue
- 2
- Pages
- 137-142
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1051840
- OpenAlex
- W2036546180
- Cited by
- 41
- References
- 1
- Citations by year
- 2024: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 6 · 2014: 1 · 2013: 1
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Rheumatology › Bone and Dental Protein Studies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Keywords
- tooth agenesis, microdontia, mode of inheritance, allelism, multifactorial inheritance, ectodermal dysplasia, nail dystrophy, linkage analysis, haplotype association
- MeSH terms
- Abnormalities, Multiple, Adult, Alleles, Anodontia, Child, Ectodermal Dysplasia, Epistasis, Genetic, Female, Genes, Dominant, Hair, Humans, Male, Microscopy, Electron, Scanning, Models, Genetic, Nails, Malformed, Pedigree, Tooth Abnormalities, Genetic Heterogeneity
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