Genes · 2026
Novel ITGB6 Mutations Causing Amelogenesis Imperfecta.
СтатьяНазвание и аннотация: Перевод в очереди
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Yin Hyemin, Jang Soojin, Kim Hyuntae, Simmer James P, Hu Jan C-C, Kim Jung-Wook
Аннотация
BACKGROUND/OBJECTIVES: Amelogenesis imperfecta (AI) is a heterogeneous group of rare hereditary conditions mainly affecting the quantity and/or quality of tooth enamel. Its phenotypic expression is diverse, as is the mutational spectrum of the AI-causing genes and mutations. Integrins are cell-surface receptors that mediate adhesion between cells and between cells and the extracellular matrix. Among these, mutations in integrin αvβ6 have been shown to cause AI; however, phenotypic variation exists between the knockout mouse model and human cases, as well as among different human AI families.
METHODS: We recruited AI families and performed mutational analysis using whole exome sequencing.
RESULTS: We identified compound heterozygous ITGB6 mutations in two families. In Family 1, a paternally transmitted nonsense mutation (NM_000888.5: c.1060C>T, p.(Gln354*)) and a maternally transmitted missense mutation (NM_000888.5: c.2312A>G, p.(Asn771Ser)) were identified; in Family 2, a paternal missense mutation (NM_000888.5: c.1693T>C, p.(Cys565Arg)) and a maternal frameshift mutation (NM_000888.5: c.2091delC, p.(Asn698Metfs*13)) were identified, each causing AI in the respective proband. Both probands exhibited generalized hypoplastic and hypomineralized AI, but no other extraoral symptoms.
CONCLUSIONS: This report will not only expand the known mutational spectrum of the ITGB6 gene but also provide evidence for the genotype-phenotype correlations, thereby improving our understanding of the functional role of ITGB6 during amelogenesis.
METHODS: We recruited AI families and performed mutational analysis using whole exome sequencing.
RESULTS: We identified compound heterozygous ITGB6 mutations in two families. In Family 1, a paternally transmitted nonsense mutation (NM_000888.5: c.1060C>T, p.(Gln354*)) and a maternally transmitted missense mutation (NM_000888.5: c.2312A>G, p.(Asn771Ser)) were identified; in Family 2, a paternal missense mutation (NM_000888.5: c.1693T>C, p.(Cys565Arg)) and a maternal frameshift mutation (NM_000888.5: c.2091delC, p.(Asn698Metfs*13)) were identified, each causing AI in the respective proband. Both probands exhibited generalized hypoplastic and hypomineralized AI, but no other extraoral symptoms.
CONCLUSIONS: This report will not only expand the known mutational spectrum of the ITGB6 gene but also provide evidence for the genotype-phenotype correlations, thereby improving our understanding of the functional role of ITGB6 during amelogenesis.