首次在两个患有牙本质生成不全性牙发育不全的摩洛哥家庭中对 LTBP3 变体进行了表征。
First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.
机构信息
Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco; Faculty of Dentistry of the Hassan II University of Casablanca, Morocco.
Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco; Université d'Angers, Equipe MitoLab, INSERM U1083, CNRS 6015, MitoVasc, SFR ICAT, Angers, France.
出版信息
Arch Oral Biol. 2022 Oct;142:105518. doi: 10.1016/j.archoralbio.2022.105518. Epub 2022 Aug 6.
OBJECTIVES
To decipher and improve the molecular diagnosis of Hypoplastic Amelogenesis Imperfecta in Morocco.
DESIGN
Using whole exome sequencing, we analyzed two Moroccan families with Hypoplastic Amelogenesis Imperfecta. The 2 patients from the first family had dental anomalies and short stature syndrome, brachyolmia and nephrocalcinosis with difference in severity, while the proband of the second family had Hypoplastic Amelogenesis Imperfecta with a suspicion of brachyolmia.
RESULTS
We identified two novel LTBP3 homozygous variants, the c.2495delT deletion (p.Phe832SerfsTer36) and the c.3716 G>A (p.Cys1239Tyr) missense variant, respectively. Molecular modelling and stability analyses of the missense variant disclosed a possible destabilization of the wild-type structure.
CONCLUSION
Although LTBP3 variants were related to this phenotype in various populations, we report the first LTBP3 variants in the Moroccan population, in families with Hypoplastic Amelogenesis Imperfecta.
目的
破译并完善摩洛哥先天性牙釉质发育不全的分子诊断。
设计
我们通过外显子组测序分析了来自两个摩洛哥家庭的先天性牙釉质发育不全患者。第一个家庭的 2 位患者均有牙齿异常和身材矮小综合征，且存在不同程度的短肢畸形和肾钙质沉着症，而第二个家庭的先证者则有先天性牙釉质发育不全，伴有短肢畸形的可疑症状。
结果
我们分别鉴定出两个 LTBP3 纯合变异，c.2495delT 缺失（p.Phe832SerfsTer36）和 c.3716G>A（p.Cys1239Tyr）错义变异。错义变异的分子建模和稳定性分析表明，可能会使野生型结构不稳定。
结论
尽管 LTBP3 变异与不同人群中的该表型有关，但我们首次在摩洛哥人群的先天性牙釉质发育不全家系中报道了 LTBP3 变异。
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