Acromelia-oligodontia syndrome.
Ontology highlight
ABSTRACT:
SUBMITTER: Talasila J
PROVIDER: S-EPMC5458011 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.
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Project description:BackgroundAbnormalities of some facial bones derived from the ectomesenchyme have been found in ectodermal dysplasia (ED) patients, but the characteristics of the zygoma are unknown.PurposeComparison between ED patients and normal individuals to understand the anatomical features of the zygoma in ED patients.Materials and methodsThirty patients diagnosed with ED based on clinical features and/or gene sequence tests and 80 normal individuals were recruited from 2016 to 2018. The thickness of the zygomatic body at 12 points on the superior, middle, and inferior areas and the length of four lines were measured on a three-dimensional cone beam computed tomography image. Differences between ED patients and normal individuals were then compared.ResultsThe zygomatic thicknesses and lengths were smaller in ED patients than in normal individuals. For ED patients, the largest thicknesses on the superior, middle, and inferior areas of the zygoma were 8.47 ± 1.49, 7.03 ± 1.56, and 5.99 ± 1.22 mm.ConclusionThe development of zygomatic thickness on the inferior area and the zygomatic length were insufficient in ED patients with oligodontia. Consequently, zygomatic hypoplasia presented difficulties for the "quad approach" to zygomatic implants in this group of patients.
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