Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
Am J Med Genet A
; 176(7): 1614-1617, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29704302
ABSTRACT
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene. Linkage analysis using short tandem repeat markers located in the vicinity of LGR5 excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Dentárias
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Anquiloglossia
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Genes Dominantes
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article